Detalhe da pesquisa
1.
ERMA (TMEM94) is a P-type ATPase transporter for Mg2+ uptake in the endoplasmic reticulum.
Mol Cell
; 84(7): 1321-1337.e11, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38513662
2.
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability.
Proc Natl Acad Sci U S A
; 121(9): e2322582121, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38381787
3.
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Hum Mol Genet
; 29(21): 3516-3531, 2021 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33105479
4.
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
N Engl J Med
; 383(27): 2628-2638, 2020 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108101
5.
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.
Mol Genet Metab
; 135(3): 221-229, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35144859
6.
Galnt11 regulates kidney function by glycosylating the endocytosis receptor megalin to modulate ligand binding.
Proc Natl Acad Sci U S A
; 116(50): 25196-25202, 2019 12 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31740596
7.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet
; 103(4): 553-567, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290151
8.
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study.
Genet Med
; 23(11): 2067-2075, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34257421
9.
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA.
Mol Genet Metab
; 134(1-2): 195-202, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34412939
10.
Hermansky-Pudlak syndrome: Mutation update.
Hum Mutat
; 41(3): 543-580, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898847
11.
Diagnosis of Chediak Higashi disease in a 67-year old woman.
Am J Med Genet A
; 182(12): 3007-3013, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32990340
12.
Mutations in GET4 disrupt the transmembrane domain recognition complex pathway.
J Inherit Metab Dis
; 43(5): 1037-1045, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32395830
13.
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.
Genet Med
; 21(8): 1772-1780, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30700791
14.
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
Ophthalmology
; 125(12): 1937-1952, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055837
15.
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.
J Pediatr Gastroenterol Nutr
; 66(3): 428-435, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29112083
16.
Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.
Mol Genet Metab
; 120(3): 288-294, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28041820
17.
Phenotypic evolution of UNC80 loss of function.
Am J Med Genet A
; 170(12): 3106-3114, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27513830
18.
A POLR3B-variant reveals a Pol III transcriptome response dependent on La protein/SSB.
bioRxiv
; 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38410490
19.
A comprehensive, multidisciplinary, precision medicine approach to discover effective therapy for an undiagnosed, progressive, fibroinflammatory disease.
Transl Res
; 215: 31-40, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31520587
20.
Rationale and Design for a Phase 1 Study of N-Acetylmannosamine for Primary Glomerular Diseases.
Kidney Int Rep
; 4(10): 1454-1462, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31701055