Detalhe da pesquisa
1.
Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.
Am J Med Genet A
; 194(5): e63530, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38197511
2.
Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing.
BMC Genomics
; 24(1): 212, 2023 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37095444
3.
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Hum Mutat
; 43(12): 1837-1843, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35870179
4.
Correction: Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing.
BMC Genomics
; 24(1): 388, 2023 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37430226
5.
The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway.
Hum Mol Genet
; 18(1): 151-63, 2009 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18845692
6.
Cholesterol and CDON Regulate Sonic Hedgehog Release from Pancreatic Cancer Cells.
J Pancreat Cancer
; 7(1): 39-47, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34235374
7.
Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer.
Sci Rep
; 10(1): 13518, 2020 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32782288
8.
Cholesterol Pathway Inhibition Induces TGF-ß Signaling to Promote Basal Differentiation in Pancreatic Cancer.
Cancer Cell
; 38(4): 567-583.e11, 2020 10 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32976774
9.
Opposing Action of Hedgehog and Insulin Signaling Balances Proliferation and Autophagy to Determine Follicle Stem Cell Lifespan.
Dev Cell
; 46(6): 720-734.e6, 2018 09 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30197240
10.
Novel tools for genetic manipulation of follicle stem cells in the Drosophila ovary reveal an integrin-dependent transition from quiescence to proliferation.
Genetics
; 199(4): 935-57, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25680813
11.
Diet controls Drosophila follicle stem cell proliferation via Hedgehog sequestration and release.
J Cell Biol
; 201(5): 741-57, 2013 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-23690177
12.
Drosophila Boi limits Hedgehog levels to suppress follicle stem cell proliferation.
J Cell Biol
; 191(5): 943-52, 2010 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-21098113
13.
HEF1-dependent Aurora A activation induces disassembly of the primary cilium.
Cell
; 129(7): 1351-63, 2007 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-17604723
14.
The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe.
J Biol Chem
; 282(34): 24583-90, 2007 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-17556368