Detalhe da pesquisa
1.
Germline mutations of homologous recombination genes and clinical outcomes in pancreatic cancer: a multicenter study in Taiwan.
J Biomed Sci
; 31(1): 21, 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38350919
2.
Dominant dystrophic epidermolysis bullosa is associated with glycolytically active GATA3+ Th2 cells which may contribute to pruritus in lesional skin.
Br J Dermatol
; 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38477474
3.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Am J Hum Genet
; 107(4): 727-742, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891193
4.
Whole-exome sequencing identified mutational profiles of urothelial carcinoma post kidney transplantation.
J Transl Med
; 20(1): 324, 2022 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35864526
5.
Genetic and epigenetic alterations of cyclic AMP response element modulator in rheumatoid arthritis.
Eur J Clin Invest
; 52(5): e13715, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34783021
6.
Single-Cell RNA Sequencing Analysis for Oncogenic Mechanisms Underlying Oral Squamous Cell Carcinoma Carcinogenesis with Candida albicans Infection.
Int J Mol Sci
; 23(9)2022 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563222
7.
AUY922 induces retinal toxicity through attenuating TRPM1.
J Biomed Sci
; 28(1): 55, 2021 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34301262
8.
Single-Cell Analysis of Different Stages of Oral Cancer Carcinogenesis in a Mouse Model.
Int J Mol Sci
; 21(21)2020 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33142921
9.
PRRT2 missense mutations cluster near C-terminus and frequently lead to protein mislocalization.
Epilepsia
; 60(5): 807-817, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30980674
10.
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol
; 29(9): 2348-2361, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30143558
11.
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.
Am J Hum Genet
; 97(2): 291-301, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26235987
12.
Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.
J Am Soc Nephrol
; 28(1): 69-75, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27151922
13.
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
Am J Hum Genet
; 93(4): 672-86, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24094744
14.
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
Am J Hum Genet
; 93(2): 336-45, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23891469
15.
Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract.
Nephrol Dial Transplant
; 31(8): 1280-3, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908769
16.
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.
Hum Mutat
; 36(12): 1150-4, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26294094
17.
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
Hum Genet
; 134(8): 905-16, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26026792
18.
Urinary neutrophil gelatinase-associated lipocalin and clinical outcomes in chronic kidney disease patients.
Clin Chem Lab Med
; 53(1): 73-83, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25153411
19.
Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.
J Am Soc Nephrol
; 25(9): 1917-22, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700879
20.
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.
Kidney Int
; 85(6): 1429-33, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24429398