Detalhe da pesquisa
1.
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Hum Mol Genet
; 32(3): 473-488, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36018820
2.
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Hum Mol Genet
; 31(4): 523-534, 2022 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508595
3.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Am J Hum Genet
; 108(1): 115-133, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33308444
4.
Analysis of the AIRE Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes.
Int J Mol Sci
; 25(5)2024 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38473903
5.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721402
6.
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.
Mol Genet Metab
; 139(4): 107630, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37392700
7.
Exploring the Mechanism of Activation of CFTR by Curcuminoids: An Ensemble Docking Study.
Int J Mol Sci
; 25(1)2023 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38203723
8.
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Am J Hum Genet
; 105(3): 640-657, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31402090
9.
Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Mol Genet Metab
; 136(4): 260-267, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35820270
10.
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.
Am J Med Genet A
; 188(10): 3032-3040, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35876338
11.
Intramolecular Interaction with the E6 Region Stabilizes the Closed Conformation of the N-SH2 Domain and Concurs with the Self-Inhibitory Docking in Downregulating the Activity of the SHP2 Tyrosine Phosphatase: A Molecular Dynamics Study.
Int J Mol Sci
; 23(9)2022 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563185
12.
Pathomorphogenesis of Glycogen-Ground Glass Hepatocytic Inclusions (Polyglucosan Bodies) in Children after Liver Transplantation.
Int J Mol Sci
; 23(17)2022 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36077394
13.
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
Hum Mol Genet
; 28(6): 1007-1022, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30481304
14.
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.
Clin Genet
; 99(6): 842-848, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33733458
15.
The Recruitment-Secretory Block ("R-SB") Phenomenon and Endoplasmic Reticulum Storage Diseases.
Int J Mol Sci
; 22(13)2021 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34202771
16.
Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.
Int J Mol Sci
; 22(9)2021 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34067185
17.
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.
Int J Mol Sci
; 22(2)2021 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33451138
18.
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
Hum Mol Genet
; 27(11): 1892-1904, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29547997
19.
Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.
Clin Genet
; 97(4): 649-654, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31846058
20.
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.
Clin Genet
; 97(3): 521-526, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31705535