Zobrazeno 1 - 10
of 27
pro vyhledávání: '"N G, Laing"'
Autor:
E. Servián-Morilla, M. Cabrera-Serrano, E. Rivas-Infante, A. Carvajal, P. J. Lamont, A. L. Pelayo-Negro, G. Ravenscroft, R. Junckerstorff, J. M. Dyke, S. Fletcher, A. M. Adams, F. Mavillard, M. A. Fernández-García, J. L. Nieto-González, N. G. Laing, C. Paradas
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-16 (2019)
Abstract TRIM32 is a E3 ubiquitin -ligase containing RING, B-box, coiled-coil and six C-terminal NHL domains. Mutations involving NHL and coiled-coil domains result in a pure myopathy (LGMD2H/STM) while the only described mutation in the B-box domain
Externí odkaz:
https://doaj.org/article/347882b61d064fd4ae84598c7da1fafa
Publikováno v:
Clinical genetics. 88(6)
An MYH2 mutation p.(Glu706Lys) was originally described in a family with autosomal dominant inheritance, where the affected family members presented with multiple congenital contractures and ophthalmoplegia, progressing to a proximal myopathy in adul
Publikováno v:
Animal genetics. 34(5)
The aim of this study was to identify possible disease-associated mutations in the canine homologue of the polycystic kidney disease gene 1 (PKD1) in Bull Terriers with autosomal dominant polycystic kidney disease. Messenger RNA was obtained from the
Publikováno v:
Animal genetics. 33(5)
Autor:
Duangrurdee Wattanasirichaigoon, V. Lip, Allan H. Beggs, Susan T. Iannaccone, F. Takada, H. Q. Tong, Kathryn J. Swoboda, C. Wallgren-Pettersson, N. G. Laing
Publikováno v:
Neurology. 59(4)
The alpha-tropomyosin-3 (TPM3) gene was screened in 40 unrelated patients with nemaline myopathy (NM). A single compound heterozygous patient was identified carrying one mutation that converts the stop codon to a serine and a second splicing mutation
Publikováno v:
The Indian journal of medical research. 114
Distal upper limb spinal muscular atrophy (SMA) is an uncommon segmental variant of SMA. The condition is usually sporadic, affects males more often than females, and manifests late in the second decade of life, remaining confined to the upper limbs.
Autor:
C, Thirion, R, Stucka, B, Mendel, A, Gruhler, M, Jaksch, K J, Nowak, N, Binz, N G, Laing, H, Lochmüller
Publikováno v:
European journal of biochemistry. 268(12)
Cofilins are actin binding proteins and regulate actin assembly in vivo. Numerous cofilin homologues have been characterized in various organisms including mammals. In mice, a ubiquitously expressed cofilin (CFL1) and a skeletal muscle specific cofil
Autor:
N G, Laing, F L, Mastaglia
Publikováno v:
Annals of human biology. 26(6)
The field of inherited skeletal muscle disease research has advanced rapidly since the identification of mutations in the dystrophin gene as the cause of Duchenne muscular dystrophy in 1987. From that point, an ever-increasing number of the genes ass
Autor:
W. K. Scott, L. H. Yamaoka, J. M. Stajich, B. L. Scott, J. M. Vance, A. D. Roses, M. A. Pericak-Vance, R. L. Watts, M. Nance, J. Hubble, W. Koller, M. B. Stern, A. Colcher, F. H. Allen Jr, B. C. Hiner, J. Jankovic, W. Ondo, N. G. Laing, F. Mastaglia, C. Goetz, E. Pappert, G. W. Small, D. Masterman, J. L. Haines, T. L. Davies
Publikováno v:
Neurogenetics. 2(3)
Publikováno v:
Human mutation. 11(3)
Several approaches may be applied to detect known mutations, including restriction enzyme cleavage, allele-specific oligonucleotide (ASO) hybridization or amplification, dideoxy fingerprinting, and direct DNA sequencing. All these approaches require