Detalhe da pesquisa
1.
Classification of PTEN missense VUS through exascale simulations.
Brief Bioinform
; 24(6)2023 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37843401
2.
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Hum Genomics
; 18(1): 5, 2024 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38287404
3.
Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.
BMC Genomics
; 25(1): 416, 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38671360
4.
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
BMC Cancer
; 24(1): 415, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38575974
5.
Pancreatic cancer cluster region identified in BRCA2.
J Med Genet
; 60(11): 1052-1056, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36977549
6.
Classification of MLH1 Missense VUS Using Protein Structure-Based Deep Learning-Ramachandran Plot-Molecular Dynamics Simulations Method.
Int J Mol Sci
; 25(2)2024 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38255924
7.
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Int J Cancer
; 152(6): 1159-1173, 2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36385461
8.
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
J Med Genet
; 59(7): 652-661, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34172528
9.
Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.
Int J Mol Sci
; 24(14)2023 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511102
10.
Core promoter mutation contributes to abnormal gene expression in bladder cancer.
BMC Cancer
; 22(1): 68, 2022 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35033028
11.
Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population.
J Med Genet
; 58(9): 587-591, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32817299
12.
Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population.
J Med Genet
; 58(8): 565-569, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32467295
13.
Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations.
J Med Genet
; 58(11): 752-759, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32963034
14.
DNA damage repair system in C57BL/6 J mice is evolutionarily stable.
BMC Genomics
; 22(1): 669, 2021 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34535077
15.
Comprehensive Identification of Deleterious TP53 Missense VUS Variants Based on Their Impact on TP53 Structural Stability.
Int J Mol Sci
; 22(21)2021 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34768775
16.
Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.
BMC Genomics
; 21(1): 842, 2020 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33256598
17.
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Int J Cancer
; 145(4): 962-973, 2019 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30702160
18.
Transforming Growth Factor ß Mediates Drug Resistance by Regulating the Expression of Pyruvate Dehydrogenase Kinase 4 in Colorectal Cancer.
J Biol Chem
; 291(33): 17405-16, 2016 08 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27330076
19.
Withdrawal: Transforming growth factor ß mediates drug resistance by regulating the expression of pyruvate dehydrogenase kinase 4 in colorectal cancer.
J Biol Chem
; 295(13): 4368, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32221033
20.
Two PALB2 germline mutations found in both BRCA1+ and BRCAx familial breast cancer.
Breast Cancer Res Treat
; 151(1): 219-24, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25833210