about
Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine modelMutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)Androgen receptor-induced tumor suppressor, KLLN, inhibits breast cancer growth and transcriptionally activates p53/p73-mediated apoptosis in breast carcinomasP-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphataseGermline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathwayBreastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriersHunting for cancer in the microbial jungleA clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probandsProtean PTEN: form and functionGermline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromesUnregulated smooth-muscle myosin in human intestinal neoplasiaSubset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutationsIntegrative genomic analysis reveals extended germline homozygosity with lung cancer risk in the PLCO cohortPTEN: one gene, many syndromesDistinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutationsGene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paragangliomaEssential role for nuclear PTEN in maintaining chromosomal integrityEngaging basic scientists in translational research: identifying opportunities, overcoming obstaclesMammalian target of rapamycin (mTOR) regulates cellular proliferation and tumor growth in urothelial carcinoma.Clinical genetic counselling for familial cancers requires reliable data on familial cancer risks and general action plans.EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis.A novel mutation in the tyrosine kinase domain of ERBB2 in hepatocellular carcinoma.Microenvironmental genomic alterations and clinicopathological behavior in head and neck squamous cell carcinoma.Age-related penetrance of hereditary atypical hemolytic uremic syndrome.AP-2alpha induces epigenetic silencing of tumor suppressive genes and microsatellite instability in head and neck squamous cell carcinomaActivation of the PI3K/AKT pathway induces urothelial carcinoma of the renal pelvis: identification in human tumors and confirmation in animal models.Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome.Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.Specific kinesin expression profiles associated with taxane resistance in basal-like breast cancerAllele-specific tumor spectrum in pten knockin miceAn ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndromeEarly-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.Somatic mutation and germline variants of MINPP1, a phosphatase gene located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomas.Over-representation of a germline variant in the gene encoding RET co-receptor GFRalpha-1 but not GFRalpha-2 or GFRalpha-3 in cases with sporadic medullary thyroid carcinoma.Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromesGermline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma.Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma.
P50
Q22337253-01FB12AE-FA08-44A7-B0CF-442DFB1A6701Q24311237-12FAC66A-183F-427B-BF8B-C0C4C667BBFCQ24318589-470B419D-CB9B-47C4-838B-765F45E47F67Q24322705-1E6622AD-27AE-49B1-BE33-33C5D5E8BE37Q24532136-31FF33DB-8302-447C-94AD-919DD64842A1Q24598482-602B1488-A848-40D7-B5F7-718ACC10F8AEQ24601810-A910FAFA-EB43-4906-AEE5-83B827915FB0Q24606333-4BE3A5DA-51E3-4372-BB4A-5FA257CD4615Q24613810-9BE7778C-7E1A-4656-9485-1AB653DDA3BFQ24649528-EA556D3E-D217-4F97-88ED-B341AC8E01DDQ24657391-EB011CF0-AB6D-4FBC-84AB-D3A98A2CDB98Q24673663-D3D4E38C-0C48-4DCF-9DE7-ED25D3E0EDB7Q27308788-A865E0AA-B4A6-43FF-907E-1A54E72CA5E6Q28203387-0AD59B96-F281-42CB-9921-A88E9E38D9E9Q28278673-A44B619F-D33B-408F-BCF4-15406E7E227DQ28366764-71642BF4-7839-4576-AA39-5B1E0751F5B4Q28513781-0AD4283B-75C2-4893-9EE7-AB6FC68AFD5EQ28728428-2444F9F4-1859-4669-B331-EF9F62B05769Q30432032-9AD52408-32FE-4BDC-AA11-0E42F4D54591Q30974845-8B7F6EED-7679-4C5C-81E5-DE4C0CC799FBQ33245402-E91C0B0B-4FB4-4174-979A-50F839D4F6FBQ33265633-E6491971-672F-4919-A4E0-CAB12A4A80F8Q33268725-5F5638E5-F728-4CB3-AF4B-2E6E3806E102Q33397115-1F343DDC-D7C1-4DAE-8246-0975CB2F56B1Q33501737-3E3E2633-A316-4A09-8709-D5688BDA8E45Q33511579-E503F8BD-5986-4688-9A06-736C8A786A54Q33586709-951D051F-0693-4CA1-AC2E-5832F0FDF014Q33606551-A38BCCE6-F710-4243-B2D5-6ED1C7796851Q33684080-C5FFA738-C470-4DAA-915F-0CB752397089Q33740171-9603E0F5-9DD6-4EF0-A60C-FAC77F85C7A0Q33904733-FC89BDB5-5BA2-4F35-BB66-67DE128832BCQ33909500-13E1AFE9-931E-4D17-BE0F-D540367BB7E4Q33942065-C710A1E9-1CEB-4779-A60C-F203E257A67BQ33947467-EA66FCC3-13B6-4CDF-BEA6-5BDCCFC5842AQ34020502-59177051-A20A-4C4D-9B10-F2F113F9713FQ34030947-446DEF5B-F516-4314-BE81-8C7839982FEEQ34203742-D1734F18-84F3-46BF-A6E8-9F9D62FE8C2DQ34334980-B88DD592-5207-417A-A393-51721116B8F4Q34399395-96B11080-E12A-42E6-A116-5327481F3400Q34413144-A2873A39-B2AC-463E-8001-26B1803151B2
P50
description
Singapore-born physician and geneticist
@en
geneticus
@nl
հետազոտող
@hy
name
Charis Eng
@ast
Charis Eng
@en
Charis Eng
@es
Charis Eng
@nl
Charis Eng
@sl
type
label
Charis Eng
@ast
Charis Eng
@en
Charis Eng
@es
Charis Eng
@nl
Charis Eng
@sl
altLabel
Charis Eng, MD, PhD
@en
prefLabel
Charis Eng
@ast
Charis Eng
@en
Charis Eng
@es
Charis Eng
@nl
Charis Eng
@sl
P106
P214
P244
P1153
7201540468
P21
P214
P244
P31
P496
0000-0002-3693-5145
P569
1962-01-01T00:00:00Z
P691
P734
P735
P7859
lccn-n90661869