Detalles de la búsqueda
1.
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.
Hum Mol Genet
; 32(7): 1127-1136, 2023 03 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-36322148
2.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Brain
; 145(11): 3985-3998, 2022 11 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-34957489
3.
Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.
Hum Mol Genet
; 29(1): 20-30, 2020 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31511858
4.
Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA.
Ann Rheum Dis
; 75(1): 242-52, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25180293
5.
Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene.
Stem Cell Res
; 77: 103411, 2024 Mar 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-38582058
6.
Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene.
Stem Cell Res
; 77: 103410, 2024 Mar 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38583293
7.
Generation of a human ACTA1-tdTomato reporter iPSC line using CRISPR/Cas9 editing.
Stem Cell Res
; 75: 103313, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38277710
8.
Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene.
Stem Cell Res
; 73: 103258, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38029555
9.
Regulatory Architecture of the RCA Gene Cluster Captures an Intragenic TAD Boundary, CTCF-Mediated Chromatin Looping and a Long-Range Intergenic Enhancer.
Front Immunol
; 13: 901747, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35769482
10.
Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene.
Stem Cell Res
; 63: 102829, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35728439
11.
Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene.
Stem Cell Res
; 63: 102830, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35728440
12.
Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel.
Skelet Muscle
; 11(1): 23, 2021 09 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-34551826
13.
Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene.
Stem Cell Res
; 53: 102273, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33740643
14.
Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene.
Stem Cell Res
; 55: 102482, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34388489
15.
Notch signaling induces a transcriptionally permissive state at the Complement C3d Receptor 2 (CR2) promoter in a pre-B cell model.
Mol Immunol
; 128: 150-164, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33129017
16.
Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy.
Acta Neuropathol Commun
; 8(1): 142, 2020 08 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-32819427
17.
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.
Acta Neuropathol Commun
; 8(1): 18, 2020 02 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-32066503
18.
Clinical utility gene card for McArdle disease.
Eur J Hum Genet
; 26(5): 758-764, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29371640
19.
Variable cardiac α-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation.
Biochim Biophys Acta Gene Regul Mech
; 1860(10): 1025-1036, 2017 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-28847732
20.
Gene Expression Networks in the Murine Pulmonary Myocardium Provide Insight into the Pathobiology of Atrial Fibrillation.
G3 (Bethesda)
; 7(9): 2999-3017, 2017 09 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-28720711