Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype - Wikidata - awgldk - TriplyDB

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype

http://www.wikidata.org/entity/Q33681476

about

Protean PTEN: form and function Hamartomatous polyposis syndromes Male breast cancer in Cowden syndrome patients with germline PTEN mutations Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancers A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly Hereditary hamartomatous polyposis syndromes: understanding the disease risks as children reach adulthood.Clinical genetics of multiple endocrine neoplasias, Carney complex and related syndromes.PTEN mutation in a family with Cowden syndrome and autism.PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations.Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.Fatty acids increase neuronal hypertrophy of Pten knockdown neurons.Voltage-sensing phosphatase: its molecular relationship with PTEN.PTEN regulates matrix synthesis in adult human chondrocytes under oxidative stress.Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.PTENHamartoma Tumor Syndrome

P2860

Q24613810-F05E784D-CA46-4D0C-AA93-7416F6F8DE9D Q24654006-836E7C4E-FAAF-4C0B-9100-A252E360AF14 Q28359884-29C54555-6961-47AD-87B5-B8F70271E588 Q28393163-6F743DA9-46F0-41A8-91A0-9BF4AF12AE6D Q28468603-771DC617-01D6-4B38-8F34-E2A7D21E1B2B Q33916338-0A5F1EA2-457F-47CB-8C89-D1DC20B9386D Q34283507-71164DBA-A58B-42E3-AAE5-92783D845184 Q34331855-74451907-853C-4DF7-BD82-665327E6534E Q34504165-1BA246A5-A853-470A-8C19-328FFB79BEA5 Q34579796-385B9B7B-9B7D-4020-AF7F-1F501B638CAE Q35164689-353D4661-AE3B-48B8-BDEB-E30F052A7D66 Q35432463-D30B2A4A-5EDC-4C0B-8402-FEEA0199A318 Q35752622-BD17CF71-6B17-4C53-A50F-1F65A3CAC7E7 Q35943062-FF0245FB-5ACF-4E5B-AD2E-FEB04769965D Q36251993-AF5E042D-9705-42F3-830B-E3A8BEE4A7AC Q37172048-C055383B-5B5D-4C2E-91F3-14F43C20DC41 Q37735039-26E8295C-C281-46B2-89E4-5F81ED1E974F Q37847813-EC8564A5-E441-4B5E-B728-FCDC4DB837C8 Q45834365-EA64E036-108B-40AE-BE0E-E17C29E70610 Q47109102-BA35AE51-DAFC-4737-97DA-395019C21383 Q52312700-EAF36C44-66B7-4844-B586-B7E940D5122A Q52624728-95934AC8-EA39-41B7-AFE0-D990574B43DE Q57590810-F6647C4E-730D-4606-9FE6-ED9A41CDD305

P2860

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype

http://www.wikidata.org/entity/Q33681476

description

1998 nî lūn-bûn

@nan

1998 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

1998 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

1998年の論文

@ja

1998年学术文章

@wuu

1998年学术文章

@zh-cn

1998年学术文章

@zh-hans

1998年学术文章

@zh-my

1998年学术文章

@zh-sg

1998年學術文章

@yue

name

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype

@ast

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype

@en

type

label

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype

@ast

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype

@en

prefLabel

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype

@ast

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype

@en

P1433

Q33681476-E23327CB-F78E-4B78-91B3-6184BFB1DE17

P1476

Q33681476-950774C3-6ECD-41B0-B807-1FA879970204

P2093

Q33681476-137E57B6-32B9-41C9-9A9E-D6DB050A68C4

Q33681476-20F6260D-2904-4F95-B1FB-329133A133A9

Q33681476-26BECA47-6037-4D44-933F-65A043EF7A46

Q33681476-363D5A5E-F7FC-410D-BCDA-B6C4CE8D941A

Q33681476-3A067977-1574-46ED-A47A-2A22A2531D3C

Q33681476-4B242826-843F-487F-90AA-22C630B1D58D

Q33681476-56975399-3984-40D5-995D-254E6452DAE8

Q33681476-58D8679E-BBC8-46EF-A1F4-B8A84B15B4D9

Q33681476-5DB7245F-0FA2-4A66-A4F8-CDE117B98441

Q33681476-96DBC3D3-F602-40D7-BECE-DFB54ED89E01

P2860

Q33681476-0296F182-104A-46AF-9506-D7D50C5285E0

Q33681476-5DDA13B1-4C8C-4CAB-BE24-D1F5D5ADE7C4

Q33681476-6F2B197D-23F5-4555-A968-D9CC8EC188FF

Q33681476-707FAE35-07BE-4EAB-9E95-AAB7C5CBD629

Q33681476-72080DFF-7973-4C98-A221-A37E2B952599

Q33681476-8EFF5D32-D01F-4124-8BB7-2A47B2F31EE5

Q33681476-A5BD1E94-7F1E-475C-8B0A-7AFCF5E035B9

Q33681476-AF2BCAF3-3A33-46AE-8F8F-F4358095A197

Q33681476-BFA7F2E3-1BDD-44A7-83A1-E131848C1D4B

Q33681476-E0C8E7CC-BF77-437E-8F22-FC258B6827BF

P304

Q33681476-8EE85308-3CF8-487C-907A-9BCE5DB2FBBA

P31

Q33681476-97F5B17A-D9D2-4D1D-98B3-2D51F23F79E0

P356

Q33681476-EDFAAA48-13A9-4002-A588-E23997AC3C27

P407

Q33681476-EF733D8D-EBCE-4E90-A755-51FB69EDBB51

P433

Q33681476-5B583494-CB22-4095-B806-E81E0EC3F3C1

P478

Q33681476-89964B0B-DFB0-48A7-AEF4-C0373355974F

P577

Q33681476-F5DC4976-AF85-4832-A6AF-60E07B7D62B0

P5875

Q33681476-960325BB-E38D-48D8-8E79-A81967151666

P698

Q33681476-AEB33E08-92A0-4702-A217-7B55C44767CE

P932

Q33681476-5BF16CD3-3C61-42A0-AD58-2B874219114C

P356

P1433

Journal of Medical Genetics

P1476

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype

@en

P2093

A Bottani

http://www.w3.org/2001/XMLSchema#string

A David

http://www.w3.org/2001/XMLSchema#string

B Duboué

http://www.w3.org/2001/XMLSchema#string

C Eng

http://www.w3.org/2001/XMLSchema#string

D Bonneau

http://www.w3.org/2001/XMLSchema#string

D Lacombe

http://www.w3.org/2001/XMLSchema#string

J L Kraimps

http://www.w3.org/2001/XMLSchema#string

M Larrègue

http://www.w3.org/2001/XMLSchema#string

M Longy

http://www.w3.org/2001/XMLSchema#string

P Amati

http://www.w3.org/2001/XMLSchema#string

P2860

TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta

PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer

PTEN1 is frequently mutated in primary endometrial carcinomas

Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome.

Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity.

Differential loss of heterozygosity in the region of the Cowden locus within 10q22-23 in follicular thyroid adenomas and carcinomas.

Germline mutations in PTEN are present in Bannayan-Zonana syndrome.

P304

886-889

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1136/JMG.35.11.886

http://www.w3.org/2001/XMLSchema#string

P407

P433

11

http://www.w3.org/2001/XMLSchema#string

P478

35

http://www.w3.org/2001/XMLSchema#string

P577

1998-11-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

13454805

http://www.w3.org/2001/XMLSchema#string

P698

9832032

http://www.w3.org/2001/XMLSchema#string

P932

1051478

http://www.w3.org/2001/XMLSchema#string