Detalhe da pesquisa
1.
Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
Cell
; 167(1): 187-202.e17, 2016 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27662089
2.
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Hum Mol Genet
; 31(21): 3729-3740, 2022 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35652444
3.
Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6.
Development
; 147(21)2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33033118
4.
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.
Genet Med
; 25(9): 100893, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37179472
5.
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
Am J Med Genet A
; 188(6): 1752-1760, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35212137
6.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Am J Hum Genet
; 102(1): 116-132, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290337
7.
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
Am J Hum Genet
; 100(4): 659-665, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28318499
8.
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Am J Hum Genet
; 101(3): 391-403, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28886341
9.
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?
Am J Med Genet A
; 182(9): 2010-2020, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32657013
10.
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.
BMC Med Genet
; 19(1): 125, 2018 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30041615
11.
Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.
Hum Mol Genet
; 24(11): 3163-71, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712129
12.
Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman-Diamond Syndrome?
Am J Med Genet A
; 188(1): 384, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34528395
13.
Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.
Am J Med Genet A
; 167A(11): 2508-15, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26192890
14.
A sustainable strategy for generating highly stable human skin equivalents based on fish collagen.
Biomater Adv
; 158: 213780, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38280287
15.
Automated Electrical Stimulation Therapy Accelerates Re-Epithelialization in a Three-Dimensional In Vitro Human Skin Wound Model.
Adv Wound Care (New Rochelle)
; 2024 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38062745
16.
Multi-variant pathway association analysis reveals the importance of genetic determinants of estrogen metabolism in breast and endometrial cancer susceptibility.
PLoS Genet
; 6(7): e1001012, 2010 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20617168
17.
Diphtheria toxin activates ribotoxic stress and NLRP1 inflammasome-driven pyroptosis.
J Exp Med
; 220(10)2023 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37642997
18.
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
EMBO Mol Med
; 15(2): e16478, 2023 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36652330
19.
A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease.
PLoS Genet
; 5(1): e1000319, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19132087
20.
Design of hydrogel-based scaffolds for in vitro three-dimensional human skin model reconstruction.
Acta Biomater
; 153: 13-37, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36191774