Detalhe da pesquisa
1.
Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.
Am J Hum Genet
; 111(5): 896-912, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38653249
2.
Autosomal dominant familial acanthosis nigricans caused by a C-terminal nonsense mutation of FGFR3.
J Hum Genet
; 66(8): 831-834, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33580140
3.
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.
Am J Hum Genet
; 93(5): 945-56, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24207119
4.
Tubulin polyglutamylation is essential for airway ciliary function through the regulation of beating asymmetry.
Proc Natl Acad Sci U S A
; 107(23): 10490-5, 2010 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20498047
5.
Premature aging syndrome showing random chromosome number instabilities with CDC20 mutation.
Aging Cell
; 19(11): e13251, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33094908
6.
Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes.
J Invest Dermatol
; 139(12): 2458-2466.e9, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31207227
7.
Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma.
J Dermatol
; 40(7): 553-7, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23662636
8.
Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis.
J Invest Dermatol
; 136(1): 325-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26763456
9.
Transmembrane and ubiquitin-like domain-containing protein 1 (Tmub1/HOPS) facilitates surface expression of GluR2-containing AMPA receptors.
PLoS One
; 3(7): e2809, 2008 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-18665261
10.
Versatile roles of R-Ras GAP in neurite formation of PC12 cells and embryonic vascular development.
J Biol Chem
; 282(6): 3413-7, 2007 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-17179160
11.
SCRAPPER-dependent ubiquitination of active zone protein RIM1 regulates synaptic vesicle release.
Cell
; 130(5): 943-57, 2007 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-17803915