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Thyrotoxic Periodic Paralysis Wikipedia

Furthermore, mutations have been reported in the genes coding for potassium voltage-gated channel, Shaw-related subfamily, member 4 (K v 3.4) and sodium channel protein type 4 subunit alpha (Na 4 1.4). [1] Of people with TPP, 33% from various populations were demonstrated to have mutations in KCNJ18 , the gene coding for K ir 2.6, an inward-rectifier potassium ion channel . ... Potassium is not in fact lost from the body, but increased Na + /K + -ATPase activity (the enzyme that moves potassium into cells and keeps sodium in the blood) leads to shift of potassium into tissues, and depletes the circulation. ... Hyperthyroidism increases the levels of catecholamines (such as adrenaline ) in the blood, increasing Na + /K + -ATPase activity. [5] The enzyme activity is then increased further by the precipitating causes. ... PMID 16608889 . ^ a b c d e f g h i j k Pothiwala P, Levine SN (2010). "Analytic review: thyrotoxic periodic paralysis: a review". ... Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). "Hypokalemic Periodic Paralysis" .

CACNA1S

Facial Infiltrating Lipomatosis Wikipedia

.; Warman, Matthew L.; Greene, Arin K.; Kurek, Kyle C. (January 2014). "PIK3CA Activating Mutations in Facial Infiltrating Lipomatosis". ... S2CID 23828181 . ^ Keppler-Noreuil, Kim M.; Rios, Jonathan J.; Parker, Victoria E.R.; Semple, Robert K.; Lindhurst, Marjorie J.; Sapp, Julie C.; Alomari, Ahmad; Ezaki, Marybeth; Dobyns, William; Biesecker, Leslie G. ... PMID 28846548 . ^ Shenoy, Archana R.; Nair, Keerthi K.; Lingappa, Ashok; Shetty, K. Sadashiva (1 April 2015). ... PMID 25872637 . ^ Couto, Javier A.; Vivero, Matthew P.; Upton, Joseph; Padwa, Bonnie L.; Warman, Matthew L.; Mulliken, John B.; Greene, Arin K. (October 2015). "Facial Infiltrating Lipomatosis Contains Somatic PIK3CA Mutations in Multiple Tissues".

Congenital Amegakaryocytic Thrombocytopenia Wikipedia

. ^ Germeshausen M, Ballmaier M, Welte K (March 2006). "MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease" . ... PMID 2378417 . S2CID 23164119 . ^ a b Ihara K, Ishii E, Eguchi M, Takada H, Suminoe A, Good RA, Hara T (1999). ... PMID 10077649 . ^ Ballmaier M, Germeshausen M, Schulze H, Cherkaoui K, Lang S, Gaudig A, Krukemeier S, Eilers M, Strauss G, Welte K (2001). ... PMID 11133753 . ^ King S, Germeshausen M, Strauss G, Welte K, Ballmaier M (December 2005). "Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients".

MPL, THPO, RUNX1, CD34, MECOM, HOXA11, IL3

Amegakaryocytic Thrombocytopenia, Congenital Omim

A number sign (#) is used with this entry because of evidence that congenital amegakaryocytic thrombocytopenia (CAMT) can be caused by homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL; 159530) on chromosome 1p34. Description Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder expressed in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies (Muraoka et al., 1997). King et al. (2005) proposed a new classification of CAMT based on the course and outcome of the disease, as exemplified by 20 patients: CAMT type I (11 patients) was characterized by early onset of severe pancytopenia, decreased bone marrow activity, and very low platelet counts. CAMT type II (9 patients) was somewhat milder and characterized by transient increases of platelet counts up to nearly normal values during the first year of life and an onset of bone marrow failure at age 3 or later. Clinical Features Muraoka et al. (1997) found that a patient with CAMT had a defective response to thrombopoietin (TPO; 600044) in megakaryocyte-colony formation, decreased numbers of erythroid and myelocytic progenitors in clonal cultures, a lack of MPL mRNA in bone marrow mononuclear cells, and an elevated serum level of TPO.
Congenital Amegakaryocytic Thrombocytopenia Orphanet

An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. Epidemiology Congenital amegakaryocytic thrombocytopenia (CAMT) prevalence is unknown and less than 100 cases have been reported in the literature. In addition, the incidence may be underestimated due to difficult and inconsistent diagnosis of the disease. Clinical description CAMT manifests since birth, often in the first day or at least within the first month of life, with petechiae, purpura, and gastrointestinal, pulmonary or intracranial hemorrhage due to isolated thrombocytopenia and a near absence of megakaryocytes in the bone marrow. Two types of CAMT have been identified. Type I-CAMT is the severe form of the disease and is characterized by persistently low platelet counts and early progression (usually by the age of 2 years) to bone marrow aplasia associated with pancytopenia.

Cantú Syndrome Wikipedia

.; Williams, Maggie; Smithson, Sarah F.; Grange, Dorothy K. (2017-04-01). "Clinical utility gene card for: Cantú syndrome" . ... PMID 28051078 . ^ a b c d e Grange, Dorothy K.; Nichols, Colin G.; Singh, Gautam K. (1993-01-01). ... Initial posting 2014 ^ Engels H, Bosse K, Ehrbrecht A, et al. (August 2002). ... Retrieved 2017-04-01 . ^ Nichols, Colin G.; Singh, Gautam K.; Grange, Dorothy K. (2013-03-29).

ABCC9, KCNJ8, MED23, GH1

Cantu Syndrome Omim

A number sign (#) is used with this entry because of evidence that hypertrichotic osteochondrodysplasia (Cantu syndrome) is caused by heterozygous mutation in the ABCC9 gene (601439) on chromosome 12p12. Description Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair which extends onto the forehead and to a general increase in body hair. Some features are suggestive of a storage disorder, including macrocephaly and coarse facial features, with a broad nasal bridge, epicanthal folds, wide mouth, and full lips. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat.
Cantú Syndrome Gene_reviews

Summary Clinical characteristics. Cantú syndrome is characterized by congenital hypertrichosis; distinctive coarse facial features (including broad nasal bridge, wide mouth with full lips and macroglossia); enlarged heart with enhanced systolic function or pericardial effusion and in many, a large patent ductus arteriosus (PDA) requiring repair; and skeletal abnormalities (thickening of the calvaria, broad ribs, scoliosis, and flaring of the metaphyses). Other cardiovascular abnormalities may include dilated aortic root and ascending aorta with rare aortic aneurysm, tortuous vascularity involving brain and retinal vasculature, and pulmonary arteriovenous communications. Generalized edema (which may be present at birth) spontaneously resolves; peripheral edema of the lower extremities (and sometimes arms and hands) may develop at adolescence. Developmental delays are common, but intellect is typically normal; behavioral problems can include attention-deficit/hyperactivity disorder, autism spectrum disorder, obsessive-compulsive disorder, anxiety, and depression. Diagnosis/testing. The diagnosis of Cantú syndrome is established in a proband with suggestive clinical findings and a heterozygous pathogenic variant in ABCC9 or KCNJ8 identified by molecular genetic testing.
Hypertrichotic Osteochondrodysplasia, Cantu Type Orphanet

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism. Epidemiology To date, fewer than 30 cases have been reported. Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, prominent mouth with full lips and macroglossia. Affected individuals have hypertrichosis with thick scalp hair extending onto the forehead and generalized increased body hair. Cardiomegaly is found in the majority of patients and pericardial effusions have been present occasionally. Additional findings in most patients included thickened calvarium, broad ribs and metaphyseal widening of long bones with enlarged medullary canals.
Cantú Syndrome Medlineplus

Cantú syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals. People with Cantú syndrome have thick scalp hair that extends onto the forehead and grows down onto the cheeks in front of the ears. They also have increased body hair, especially on the back, arms, and legs. Most affected individuals have a large head (macrocephaly ) and distinctive facial features that are described as "coarse." These include a broad nasal bridge, skin folds covering the inner corner of the eyes (epicanthal folds ), and a wide mouth with full lips.

Ischiopatellar Dysplasia Wikipedia

Knee Surgery & Related Research. 2016;28(1):75-78. ^ Kozlowski K, Nelson J. Small patella syndrome. ... J Bone Joint Surg Br. 1979;61:172–175. ^ Kozlowski K, Nelson J. Small patella syndrome. ... Am J Hum Genet. 2004;74:1239–1248. ^ Kozlowski K, Nelson J. Small patella syndrome. ... Am J Hum Genet. 2004;74:1239–1248. ^ Kozlowski K, Nelson J. Small patella syndrome. ... Knee Surgery & Related Research. 2016;28(1):75-78. ^ Kozlowski K, Nelson J. Small patella syndrome.

TBX4, GP6, SMS, GAS6, PDSS1, SEPHS1, SOX9, PEAR1, POU2F3, NOL3, PLA2G6, SERPINC1, BDNF, PNOC, PLG, PLA2G2A, PLA2G1B, OPRL1, ATXN3, GAD2, PGR-AS1

Coxopodopatellar Syndrome Orphanet

Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. Epidemiology Less that 50 patients have been reported worldwide. Clinical description The main clinical features include patellar aplasia or hypoplasia, associated with absent, delayed or irregular ossification of the ischiopubic junctions and/or the infra-acetabular axe-cut notches. Additional features found in the majority of reported patients include femur and foot anomalies (a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus). Craniofacial anomalies (micrognathia, cleft palate, flattened nose and prominent forehead) have been reported occasionally. Intrafamilial variability of the patellar, pelvic and foot anomalies has been described.
Small Patella Syndrome Gard

Small patella syndrome (SPS) is a rare syndrome that mainly affects the way certain bones are formed (developed). A person with SPS usually has very small kneecaps (hypoplastic patella) or may have no kneecaps at all ( aplastic ). The hip (pelvic) bones may be weak, and the bones of the feet may not have formed correctly. Occasionally, bones in the face may also be affected. Small patella syndrome is caused by a change (pathogenic variant or mutation) in the TBX4 gene. The syndrome is inherited in an autosomal dominant manner. Diagnosis of the syndrome is suspected based on features that can be seen in a physical exam and on imaging tests such as X-rays.
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension Omim

A number sign (#) is used with this entry because ischiocoxopodopatellar syndrome (ICPPS), also known as small patella syndrome, is caused by heterozygous mutation in the TBX4 gene (601719) on chromosome 17q23. Description Ischiocoxopodopatellar syndrome (ICPPS) is a rare autosomal dominant disorder characterized by a/hypoplasia of the patellas and various anomalies of the pelvis and feet. Pelvic anomalies include bilateral absent or delayed ossification of the ischiopubic junction and infraacetabular axe cut notches. Other major signs are a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus (summary by Bongers et al., 2001). Pediatric-onset pulmonary arterial hypertension may be seen in association with ICPPS (Kerstjens-Frederikse et al., 2013 and Levy et al., 2016).

Neurodegeneration With Brain Iron Accumulation Wikipedia

In Sigel, Astrid; Freisinger, Eva; Sigel, Roland K. O.; Carver, Peggy L. (Guest editor) (eds.). ... Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). "Pantothenate Kinase-Associated Neurodegeneration" . ... Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). "PLA2G6-Associated Neurodegeneration" . ... Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). "Beta-Propeller Protein-Associated Neurodegeneration" . ... Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). "Fatty Acid Hydroxylase-Associated Neurodegeneration" .

WDR45, PANK2, C19orf12, PLA2G6, PLB1, FA2H, YWHAZ, PLA2G1B, ATP13A2, FTL, COASY, SOD1, DCAF17, PANK1, FBXO7, CRAT, CP, C9orf72, GLB1, F5, RAB39B, SLC52A3, REPS1, FXN, DDHD1, GCH1, GFER, GJA1, SPARC, TFRC, IGFALS, PRKN, PLA2G4A, PRPS1, SPAG9, PRKRA, SGSH, SLC6A3, HSP90B2P, PINK1

Neurodegeneration With Brain Iron Accumulation Gard

Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia. Symptoms include progressive dystonia (a movement disorder resulting in muscular spasms, twisting, and repetitive movements) spasticity, parkinsonism (slurred or slow speech, stiffness of the muscles, slow movement, and visible tremors), inability to coordinate movements (ataxia), neuropsychiatric abnormalities (confusion, disorientation, seizures, stupor, dementia), and eye problems, such as optic atrophy or retinal degeneration. The age of onset ranges from infancy to late adulthood, and the rate of progression varies. Some subtypes have cognitive decline. Cerebellar atrophy is common in many cases. There are ten recognized types of NBIA, classified according to the altered gene that causes the disease.
Neurodegeneration With Brain Iron Accumulation Orphanet

Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. Epidemiology An estimated prevalence of 1-3/1,000,000 has been suggested based on observed cases in a population. The most common form of NBIA is pantothenate kinase-associated neurodegeneration (PKAN; see this term), which accounts for approximately 50% of cases. Clinical description NBIA can present as early onset with rapid progression: classic pantothenate kinase-associated neurodegeneration (PKAN), infantile neuroaxonal dystrophy (INAD) and atypical neuroaxonal dystrophy (atypical NAD) (see these terms); or later onset with slower progression: atypical PKAN, neuroferritinopathy and aceruloplasminemia (see these terms). Idiopathic NBIA can have either type of onset and progression. Etiology Classic and atypical PKAN are caused by mutations in the PANK2 gene (20p13-p12.3), infantile and atypical neuroaxonal dystrophy are caused by mutation in the PLA2G6 gene (22q13.1), aceruloplasminemia is caused by mutation of the ceruloplasmin ( CP ) gene (3q23-q24) and neuroferritinopathy is caused by mutations in the ferritin light chain ( FTL1 ) gene (19q13.3-q13.4).

Blood Group, Globoside System Omim

Molecular Genetics Okajima et al. (2000) determined that the P antigen (Gb4) is synthesized from the P(k) antigen by the B3GALNT1 gene. The P(k) antigen is part of the P1PK blood group system (111400).

Lymphoid Leukemia Wikipedia

NK cell therapy is a possible treatment for many different cancers such as Malignant glioma . [11] References [ edit ] ^ a b c d e f g h i j k l m n o p Table 12-8 in: Mitchell, Richard Sheppard; Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson (2007). ... ISBN 978-1-4160-2973-1 . 8th edition. ^ a b Suzuki R, Suzumiya J, Yamaguchi M, Nakamura S, Kameoka J, Kojima H, Abe M, Kinoshita T, Yoshino T, Iwatsuki K, Kagami Y, Tsuzuki T, Kurokawa M, Ito K, Kawa K, Oshimi K (May 2010). ... Oncol . 21 (5): 1032–40. doi : 10.1093/annonc/mdp418 . PMID 19850638 . ^ Oshimi K (July 2003). "Leukemia and lymphoma of natural killer lineage cells". ... PMID 15297846 . ^ Rubnitz JE, Inaba H, Kang G, Gan K, Hartford C, Triplett BM, Dallas M, Shook D, Gruber T, Pui CH, Leung W (August 2015). ... PMID 25925135 . ^ a b Sakamoto, N; Ishikawa, T; Kokura, S; Okayama, T; Oka, K; Ideno, M; Sakai, F; Kato, A; Tanabe, M; Enoki, T; Mineno, J; Naito, Y; Itoh, Y; Yoshikawa, T (2015).

Epidemic Dropsy Wikipedia

PMID 10621875 . ^ a b c d e f g h Das, M.; Khanna, S. K. (1997). "Clinicoepidemiological, Toxicological, and Safety Evaluation Studies on Argemone Oil". ... PMID 9189656 . ^ a b Das, M.; Babu, K.; Reddy, N. P.; Srivastava, L. M. (2005). ... PMID 20020849 . ^ Das, M.; Ansari, K. M.; Dhawan, A.; Shukla, Y.; Khanna, S. K. (2005). "Correlation of DNA Damage in Epidemic Dropsy Patients to Carcinogenic Potential of Argemone Oil and Isolated Sanguinarine Alkaloid in Mice" . ... PMID 15981203 . ^ Seifen, E.; Adams, R. J.; Riemer, R. K. (1979). "Sanguinarine: A Positive Inotropic Alkaloid which Inhibits Cardiac Na+, K+ -ATPase".

Fetal Adenocarcinoma Wikipedia

Boca Raton FL: CRC Press. pp. 65–89. ^ Gupta K, Joshi K, Jindal SK, Rayat CS (2008). ... Indian J Pathol Microbiol . 51 (3): 329–36. doi : 10.4103/0377-4929.42505 . PMID 18723952 . ^ Kadota K, Haba R, Katsuki N, et al. (October 2010). ... PMID 16387506 . ^ a b Matsuoka T, Sugi K, Matsuda E, et al. (August 2006). ... PMID 17173289 . S2CID 21460613 . ^ Furuya K, Yasumori K, Takeo S, et al. (2008). ... PMID 8719071 . ^ Sato S, Koike T, Yamato Y, Yoshiya K, Honma K, Tsukada H (December 2006).

TP53, DICER1

Cholinergic Urticaria Wikipedia

.; Egawa, G.; Miyachi, Y.; Kabashima, K. (2012). "Cholinergic urticaria: Pathogenesis-based categorization and its treatment options" . ... S.; Louback, J. B.; Winkelmann, R. K.; Greaves, M. W. (1987). "Cholinergic urticaria. ... PMID 10233318 . ^ a b Kozaru, T.; Fukunaga, A.; Taguchi, K.; Ogura, K.; Nagano, T.; Oka, M.; Horikawa, T.; Nishigori, C. (2011). ... PMID 23094789 . ^ Nakazato, Y.; Tamura, N.; Ohkuma, A.; Yoshimaru, K.; Shimazu, K. (2004). "Idiopathic pure sudomotor failure: Anhidrosis due to deficits in cholinergic transmission". ... PMID 7962780 . ^ Silpa-Archa, N.; Kulthanan, K.; Pinkaew, S. (2011). "Physical urticaria: Prevalence, type and natural course in a tropical country".

CLEC10A, MGLL, SERPINA3, CEACAM5

Hereditary Diffuse Leukoencephalopathy With Spheroids Wikipedia

Int J Clin Exp Pathol, 3(7), 665-674. ^ a b c d e f g h i j k l m Sundal, C., Lash, J., Aasly, J., Oygarden, S., Roeber, S., Kretzschman, H., . . . Wszolek, Z. K. (2012). Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity. ... Movement Disorders, 27, S399-S400. ^ a b Kinoshita, M., Yoshida, K., Oyanagi, K., Hashimoto, T., & Ikeda, S. (2012). ... C., Uitti, R. J., Hutton, M. L., Yamaguchi, K., . . . Wszolek, Z. K. (2006). Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. ... M., Wider, C., Shuster, E. A., Aasly, J., . . . Wszolek, Z. K. (2012). MRI characteristics and scoring in HDLS due to CSF1R gene mutations.

CSF1R, AARS2, CSF1, AARS1, AIF1, CSF2, MAPT, CTSA, TYROBP

Leukoencephalopathy, Hereditary Diffuse, With Spheroids Omim

A number sign (#) is used with this entry because hereditary diffuse leukoencephalopathy with spheroids (HDLS) is caused by heterozygous mutation in the CSF1R gene (164770) on chromosome 5q32. Description Hereditary diffuse leukoencephalopathy with spheroids is an autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes (summary by Rademakers et al., 2012). Clinical Features Lanska et al. (1994) presented clinical and pathologic information on 2 large multigenerational families with a form of autosomal dominant adult-onset dementia termed progressive subcortical gliosis. Affected individuals presented in the fifth or sixth decade of life with personality change and degeneration of social ability which later developed into a profound dementia with mutism, dysphagia, and extrapyramidal signs.
Adult-Onset Leukoencephalopathy With Axonal Spheroids And Pigmented Glia Medlineplus

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of ALSP is leukoencephalopathy, which is the alteration of a type of brain tissue called white matter. White matter consists of nerve fibers (axons) covered by a substance called myelin that insulates and protects them. The axons extend from nerve cells (neurons ) and transmit nerve impulses throughout the body. Areas of damage to this brain tissue (white matter lesions) can be seen with magnetic resonance imaging (MRI).
Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia Orphanet

Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.
Hereditary Diffuse Leukoencephalopathy With Spheroids Gard

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of HDLS is leukoencephalopathy, which is damage to a type of brain tissue called white matter . Another common finding is axon damage due to swellings called spheroids. Damage to myelin and axons is thought to contribute to many of the neurological signs and symptoms seen in people with this condition, including the personality changes, loss of memory, changes in motor skills and dementia. HDLS is caused by mutations in the CSF1R gene. It is inherited in an autosomal dominant pattern.

Germ Cell Tumor Wikipedia

.; Matsuzaki, Shinya; Klar, Maximilian; Roman, Lynda D.; Sood, Anil K.; Gershenson, David M. (2020-05-29). ... Retrieved 2011-12-22 . ^ Omata T, Kodama K, Watanabe Y, Iida Y, Furusawa Y, Takashima A, Takahashi Y, Sakuma H, Tanaka K, Fujii K, Shimojo N (May 2017). ... PMID 15761467 . ^ Maoz, Asaf; Matsuo, Koji; Ciccone, Marcia A.; Matsuzaki, Shinya; Klar, Maximilian; Roman, Lynda D.; Sood, Anil K.; Gershenson, David M. (2020-05-29). ... PMID 32485873 . ^ Maoz, Asaf; Matsuo, Koji; Ciccone, Marcia A.; Matsuzaki, Shinya; Klar, Maximilian; Roman, Lynda D.; Sood, Anil K.; Gershenson, David M. (2020-05-29). ... PMID 32485873 . ^ Maoz, Asaf; Matsuo, Koji; Ciccone, Marcia A.; Matsuzaki, Shinya; Klar, Maximilian; Roman, Lynda D.; Sood, Anil K.; Gershenson, David M. (2020-05-29).

POU5F1, DMRT1, KITLG, NANOG, GDF3, DPPA3, BUB1B, ATF7IP, SCNN1A, SLC2A3, ERCC4, ERCC1, TRIP13, CD9, PHC1, TP53, POU5F1P4, POU5F1P3, IGHV1-12, AFP, KIT, BRAF, MDM2, TNFRSF8, IGF2, CDKN2A, ERBB2, SLC22A3, KRAS, DND1, TSPY3, TSPY10, TSPY1, MIR373, MIR371A, H19, CD274, FGF4, SALL4, PARP1, AR, QPCT, CTNNB1, CLEC10A, BCL10, CISH, PDE11A, PDGFRB, KDR, SMUG1, CHEK2, NOTCH1, NRAS, GPC3, GATA6, NR5A1, PTEN, NTRK1, PCNA, ALPG, WT1, SNRPN, CCNB1, MIR372, CDK2, CSF3, CSH1, CSH2, VDR, SOX2, VEGFA, HRAS, SUB1, AGO2, FAM50B, AKR1C3, ATRNL1, AXIN1, PTPN23, TKTL1, PAGE1, HSPB3, UTF1, EBAG9, PTTG1, PIWIL1, TP63, MRPL28, PDPN, CTCF, AMACR, LIPG, PAGE4, PADI4, CIB1, CLSTN1, MVP, CKAP4, PRSS21, GAB2, NES, CCL27, NRIP1, DICER1, ADCYAP1, DHDH, MIR99A, TCF7L1, AKR1E2, GCNA, PIWIL4, MAPK15, YTHDF3, NUTM1, SNAI3, KIF7, MIR142, MIR214, MIR223, MIR302D, PDLIM3, MIR367, NME1-NME2, MAGED4, SPANXA2, ERVK-2, ERVK-12, ERVK-22, ERVK-24, ERVK-11, DDH2, CERNA3, LOC110806263, SPRY4, MAGED4B, TET1, ASRGL1, HPGDS, NXT1, SENP1, DNMT3L, SPANXA1, ERVW-1, TGCT1, MYOZ2, DDX4, SPATA6, ESRP1, PIWIL2, TFPI2, NAT10, PACC1, FBXW7, INTS2, SLAMF7, DMRT3, DMRTB1, PRDM14, GOLPH3, SOX17, NDNF, LIN28A, CCDC6, SRPK1, GHS, CTLA4, DCC, ACE, AKR1C1, DFFA, TIMM8A, EEF1A1, EGFR, ELK1, ERG, ESR1, ESR2, FAT1, FGF3, FGFR3, FHIT, FLT1, FLT3, FOLH1, MTOR, GATA4, GH1, MSH6, HIC1, HIF1A, HLA-A, CYP19A1, CSF2, ZBTB16, CSF1R, AKT1, ALB, ALPP, AMH, APAF1, APC, APEX1, APP, FAS, ATHS, CCND1, BCL2, BSG, CA9, CASP9, CCND2, TNFSF8, CD34, ENTPD5, CD44, CDH1, CDK4, CDKN1B, CDKN2B, CSE1L, HNF4A, HSPB1, HSPB2, IDH2, MAPK1, PSMD10, PTHLH, RET, RPE65, CXCL12, SRSF5, SLPI, ITPRID2, SST, AURKA, TAL1, TBX1, ZNF354A, TDGF1, TEAD1, TERT, TGFB2, TK1, TK2, UVRAG, WNT8A, XIST, XPA, XRCC1, PPP2R2A, PML, PIK3CG, MDK, JAG2, JUP, LAMC2, LGALS3, LIF, LPL, EPCAM, MAD2L1, SMAD4, MAGEA1, MCF2, MDM4, PIK3CD, MLH1, MXI1, MYC, NME1, NME2, PCYT1A, PEG3, PGF, PIGF, PIK3CA, PIK3CB, H3P9

Angiomyofibroblastoma Wikipedia

PMID 11776120 . ^ Seo, J. W.; Lee, K. A.; Yoon, N. R.; Lee, J. W.; Kim, B. ... PMC 3784123 . PMID 24328028 . ^ Lim, K. J.; Moon, J. H.; Yoon, D. Y.; Cha, J. ... PMID 20202207 . ^ Seo, J. W.; Lee, K. A.; Yoon, N. R.; Lee, J. W.; Kim, B.

BCL2, FOXO1

Diversion Colitis Wikipedia

Possible pharmacologic treatments include short-chain fatty acid irrigation, steroid enemas and mesalazine . [4] For surgical candidates, reanastomosis is a reversal procedure carried out to restore bowel continuity that effectively halts the symptoms of diversion colitis. [1] References [ edit ] ^ a b c Tominaga K, Kamimura K, Takahashi K, Yokoyama J, Yamagiwa S, Terai S (April 2018).

Permanent Neonatal Diabetes Mellitus Medlineplus

These genes provide instructions for making parts (subunits) of the ATP-sensitive potassium (K-ATP) channel. Each K-ATP channel consists of eight subunits, four produced from the KCNJ11 gene and four from the ABCC8 gene. K-ATP channels are found across cell membranes in the insulin-secreting beta cells of the pancreas. ... Mutations in the KCNJ11 or ABCC8 gene that cause permanent neonatal diabetes mellitus result in K-ATP channels that do not close, leading to reduced insulin secretion from beta cells and impaired blood sugar control.

Migrainous Infarction Wikipedia

PMID 21624990 . S2CID 12877187 . ^ a b Laurell, K.; Artto, V.; Bendtsen, L.; Hagen, K.; Kallela, M.; Meyer, E. ... PMID 24816400 . S2CID 4164884 . ^ Greenlund, K. J.; Neff, L. J.; Zheng, Z. J.; Keenan, N. ... PMID 15858188 . ^ Rothrock, J.; North, J.; Madden, K.; Lyden, P.; Fleck, P.; Dittrich, H. (1993-12-01). ... S2CID 45901670 . ^ Zeller, J. A.; Frahm, K.; Baron, R.; Stingele, R.; Deuschl, G. (2004-07-01). ... PMID 12533097 . ^ Thie, A.; Spitzer, K.; Lachenmayer, L.; Kunze, K. (1988).

Autoimmune Lymphoproliferative Syndrome Wikipedia

] ^ a b Sneller, Michael C.; Dale, Janet K.; Straus, Stephen E. (2003). "Autoimmune lymphoproliferative syndrome" . ... S.; Caminha, I.; Niemela, J. E.; Rao, V. K.; Davis, J.; Fleisher, T. A.; Oliveira, J. ... ] ^ Koneti Rao, V.; Dugan, Faith; Dale, Janet K.; Davis, Joie; Tretler, Jean; Hurley, John K.; Fleisher, Thomas; Puck, Jennifer; Straus, Stephen E. (2005). ... ] ^ Teachey, D. T.; Obzut, DA; Axsom, K; Choi, JK; Goldsmith, KC; Hall, J; Hulitt, J; Manno, CS; et al. (2006). ... PMC 2774763 . PMID 19214977 . ^ Rao, V. K.; Oliveira, J. B. (2011). "How I treat autoimmune lymphoproliferative syndrome" .

FAS, FASLG, CASP10, NRAS, CASP8, PRKCD, TNFAIP3, RASGRP1, IL10, TRBV20OR9-2, KRAS, SPP1, UNC13D, IL17A, STAT3, FOXP3, B3GAT1, CTLA4, PRF1, CDR3, FADD, TIMP1, TNF, MIR21, EOMES, MIR146A, IL17F, PPIG, LSM2, BCL2L11, TNFRSF13C, KLRG1, TCF7, MMRN1, SMUG1, ADA2, KRT20, LYPLA1, ABCD1, HNF1A, TAP1, AIRE, XIAP, BCL2, CASP9, MS4A1, CD27, CD28, CD48, LRBA, CETN2, COL4A2, MTOR, HLA-A, HMMR, IFNG, IL2RA, ISG20, SH2D1A, PCNA, PIK3CD, APCS, SLC6A3, STAT5B, RN7SL263P

Autoimmune Lymphoproliferative Syndrome Gene_reviews

Summary Clinical characteristics. Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age Autoimmune disease, mostly directed toward blood cells Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS ), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; in many affected individuals, however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. In ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS , severe lymphoproliferation occurs before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (α/β-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS , although lower incidence of splenectomy and lower lymphocyte counts have been reported in ALPS-sFAS and no cases of lymphoma have yet been published. Diagnosis/testing. The diagnosis of ALPS is based on the following: Clinical findings Laboratory abnormalities: Abnormal biomarker testing (soluble interleukin-10 [IL-10], Fas ligand [FasL], IL-18, and vitamin B 12 ) Defective in vitro tumor necrosis factor receptor superfamily member 6 (Fas)-mediated apoptosis T cells that express the alpha/beta T-cell receptor but lack both CD4 and CD8 (so-called "α/β-DNT cells") Identification of pathogenic variants in genes relevant for the Fas pathway of apoptosis.
Autoimmune Lymphoproliferative Syndrome Omim

A number sign (#) is used with this entry because autoimmune lymphoproliferative syndrome (ALPS) type IA is caused by heterozygous mutation in the FAS gene (TNFRSF6, or CD95; 134637); ALPS type IB is caused by heterozygous mutation in the FAS ligand (FASL) gene (TNFSF6 or CD95L; 134638). Both germline and somatic mutations in the FAS gene have been identified in patients with ALPS type IA. A subset of patients may have a heterozygous germline mutation combined with a somatic mutation, resulting in a '2-hit' disease mechanism. Description Autoimmune lymphoproliferative syndrome is a heritable disorder of apoptosis, resulting in the accumulation of autoreactive lymphocytes. It manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias (summary by Dowdell et al., 2010).
Autoimmune Lymphoproliferative Syndrome Gard

Autoimmune lymphoproliferative syndrome (ALPS) is a disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). This results in the overproduction of lymphocytes, which build up and cause enlargement of the lymph nodes, liver and spleen. Affected individuals have an increased risk of developing cancer of the immune system cells (lymphoma) and may be at increased risk for other cancers. They can also have a variety of autoimmune disorders , most of which damage the blood cells. Some of the autoimmune disorders associated with ALPS can also damage the kidneys, liver, eyes, nerves, or connective tissues.
Autoimmune Lymphoproliferative Syndrome Medlineplus

Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation). Accumulation of excess lymphocytes results in enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly). Autoimmune disorders are also common in ALPS. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Most of the autoimmune disorders associated with ALPS target and damage blood cells .
Autoimmune Lymphoproliferative Syndrome Orphanet

A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma. Epidemiology The prevalence of ALPS is unknown. It has been characterized in more than 500 patients to date and has been reported worldwide in various ethnic groups. Clinical description ALPS is clinically heterogeneous with the following primary clinical signs: lymphoproliferation, manifesting as lymphadenopathy and hepatosplenomegaly with or without hypersplenism, often improving with age, autoimmune disease, mostly involving blood cells, and an increased risk of lymphoma lifelong. Many patients develop non-malignant lymphoproliferation during the first years of life. Clinical manifestations of autoimmunity in the form of hemolytic anemia, thrombocytopenia, neutropenia, or autoimmune hepatitis are of variable severity but these signs are often absent at the time of diagnosis.
Autoimmune Lymphoproliferative Syndrome, Type Iii Omim

A number sign (#) is used with this entry because autoimmune lymphoproliferative syndrome type III (ALPS3) is caused by homozygous mutation in the PRKCD gene (176977) on chromosome 3p21. Description Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013). For a general description and a discussion of genetic heterogeneity of ALPS, see 601859.
Autoimmune Lymphoproliferative Syndrome, Type Iia Omim

A number sign (#) is used with this entry because autoimmune lymphoproliferative syndrome type IIA (ALPS2A) is caused by mutation in the CASP10 gene (601762). For a phenotypic description and a discussion of genetic heterogeneity of ALPS, see 601859. Clinical Features Wang et al. (1999) reported 2 unrelated patients with ALPS2A. An 11-year-old African American female presented with prominent nonmalignant adenopathy, hepatosplenomegaly, and Coombs-positive hemolytic anemia at 1 year of age. She exhibited a wide-ranging loss of immunologic self-tolerance involving hypergammaglobulinemia with multiple autoantibodies, such as anti-erythrocyte, anti-RNP (180740), anti-SM (601061), anti-SSB (109090), and rheumatoid factor as well as anti-factor VIII (300841) antibody, which caused a severe clotting disorder.

Ulegyria Wikipedia

This effectively inactivates the Na-K pump , leading to the uptake of calcium ions by the cell. ... S2CID 28080071 . ^ a b c d Montassir, H; Maegaki, Y; Ohno, K; Ogura, K (2010). "Long term prognosis of symptomatic occipital lobe epilepsy secondary to neonatal hypoglycemia". ... -C.; Lee, J.-S.; Kim, H.-S.; Kim, M.-K.; Woo, Y.-J.; Kim, J.-H.; Jung, S; Palmini, A; Kim, Seung U. (2006). ... ISBN 978-0781751049 . ^ a b c Usui, N; Mihara, T; Baba, K; Matsuda, K; Tottori, T; Umeoka, S; Nakamura, F; Terada, K; Usui, K; Inoue, Yushi (2008). ... S2CID 498402 . ^ a b Chang, B; Walsh, CA; Apse, K; Bodell, A; Pagon, RA; Adam, TD; Bird, CR; Dolan, K; Fong, MP; Stephens, K (1993).

Sugarcane Grassy Shoot Disease Wikipedia

Phytoplasma-infected plants growing in vitro show sensitivity to tetracycline . [22] [23] See also [ edit ] Sugar List of sugarcane diseases Vector (epidemiology) Chlorosis References [ edit ] ^ a b c d e Nasare, K., Yadav, Amit., Singh, A. K., Shivasharanappa, K. ... Teakle (Eds) Science Publishers, Hamshere, USA, Pg: 265-314. ^ a b c Rao, G. P. and Dhumal, K. N. (2002) Grassy Shoot Disease of Sugarcane. ... J., Harrison, N. A., Ahrens, U., Lorenz, K. H., Seemüller, E., and Kirkpatrick, B. ... Microbiol. 62: 2988-2993. ^ Kirdat K, Tiwarekar B, Thorat V, Sathe S, Shouche Y, Yadav A. ... Journal of Economic Entomology. 99(5):1531-1537. ISSN 0022-0493 ^ Blanche, K. R., Tran-Nguyen, T. T., and Gibb, K.