Results 211 to 220 of about 139,916 (258)

First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene. [PDF]

Neurogenetics
Perera BLA, Stewart R, Furuta Y, Ezell KM, Rives L, Nunley B, McMinn A, Krokosky A, Neumann S, Koziura ME, Undiagnosed Diseases Network, Hamid R, Cogan JD, Cassini TA, Gamazon ER, Phillips Iii JA, Tinker RJ.   +16 more
europepmc   +1 more source

DRED: A Comprehensive Database of Genes Related to Repeat Expansion Diseases. [PDF]

Genomics Proteomics Bioinformatics
Shi Q, Dai M, Ma Y, Liu J, Liu X, Wang XJ.   +5 more
europepmc   +1 more source

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort. [PDF]

Genet Med
Fazal S, Dashnow H, Dohrn MF, Raposo J, Hiatt L, Danzi MC, Xu IRL, Toro C, Adams DR, Usdin K, Hayward B, Kobren SN, Sunyaev SR, Spillmann RC, Shashi V, Rebelo A, Bademci G, Undiagnosed Diseases Network, Tekin M, Quinlan AR, Zuchner S.   +20 more
europepmc   +1 more source

G-Quadruplexes in Repeat Expansion Disorders

International Journal of Molecular Sciences, 2023
The repeat expansions are the main genetic cause of various neurodegeneration diseases. More than ten kinds of repeat sequences with different lengths, locations, and structures have been confirmed in the past two decades. G-rich repeat sequences, such as CGG and GGGGCC, are reported to form functional G-quadruplexes, participating in many important ...
Ye Teng, Teng Ye
exaly   +3 more sources

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Repeat expansions in myoclonic epilepsy

Nature Genetics, 2018
Noncoding expanded repeats have been implicated in a wide range of diseases. A new report uncovers expanded TTTCA and TTTTA repeats in an intronic region of SAMD12, and at least two other genes, in individuals with benign adult familial myoclonic epilepsy.
Marka, van Blitterswijk, Rosa, Rademakers   +1 more
openaire   +2 more sources

[Expansion of trinucleotide repeats].

Molekuliarnaia biologiia, 2001
This review describes a novel type of genome instability, expansion of trinucleotide repeats. Originally discovered in 1991 upon cloning the gene responsible for the fragile X syndrome, it appeared to be a general phenomenon responsible for a growing number of human neurological disorders.
E Iu, Siianova, S M, Mirkin
openaire   +3 more sources

Repeated expansion in burn sequela

Burns, 2002
This paper presents a retrospective study of the use of 346 expanders in 132 patients operated at the Ivo Pitanguy Clinic, between the period of 1985 and 2000. The expanders were used in the treatment of burn sequela. In the majority of cases, more than one expander was used at the same time. In 42 patients, repeated tissue expansion was done.
Ivo, Pitanguy, Natale Ferreira, Gontijo de Amorim, Henrique N, Radwanski, José Eduardo, Lintz   +3 more
openaire   +2 more sources

The molecular pathogenesis of repeat expansion diseases

Biochemical Society Transactions, 2021
Expanded short tandem repeats in the genome cause various monogenic diseases, particularly neurological disorders. Since the discovery of a CGG repeat expansion in the FMR1 gene in 1991, more than 40 repeat expansion diseases have been identified to date.
Yuzo Fujino, Yoshitaka Nagai
openaire   +2 more sources

Repeat Expansion Disease Models

2018
Repeat expansion disorders are a group of inherited neuromuscular diseases, which are caused by expansion mutations of repeat sequences in the disease-causing genes. Repeat expansion disorders include a class of diseases caused by repeat expansions in the coding region of the genes, producing mutant proteins with amino acid repeats, mostly the ...
Morio, Ueyama, Yoshitaka, Nagai
openaire   +2 more sources

Trinucleotide repeat expansion in neurological disease

Annals of Neurology, 1994
AbstractExpansion of trincleotide repeats is now recognized as a major cause of neurological disease. At least seven disorders result from trinucleotide repeat expansion: X‐linked spinal and bulbar muscular atrophy (SBMA), two fragile×syndromes of mental retardation (FRAXA and FRAXE), myotonic dystrophy, Huntington's disease, spinocerebellar ataxia ...
A R, La Spada, H L, Paulson, K H, Fischbeck   +2 more
openaire   +2 more sources