Results 61 to 70 of about 25,953 (158)

Clinical and genetic analysis of juvenile-onset Huntington's disease: 10 cases report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Objective To investigate the clinical features and dynamic mutation of 10 cases with juvenile-onset Huntington's disease (HD). Methods The cytosine-adenine-guanine (CAG) repeats of IT15 gene were detected by polymerase chain reaction (PCR) and capillary
Ying HAO, Yuan-yuan CHEN, Jin ZHANG, Hui-zi MA, Wei-hong GU   +4 more
doaj  

CTG18.1 and ERDA-1 CAG/CTG Repeat Size in Bipolar Disorder

Neurobiology of Disease, 1999
Several groups have reported association between large CAG/CTG repeat sequences in the genome and bipolar disorder using the Repeat Expansion Detection (RED) method.
C.A. Guy, T. Bowen, I. Jones, F. McCandless, M.J. Owen, N. Craddock, M.C. O'Donovan   +6 more
doaj   +1 more source

Analysis of the CAG Repeat Number in a Patient with Huntington's Disease.

Internal Medicine, 1999
This study was performed to confirm 1) the difference in the trinucleotide CAG repeat number among tissues, 2) somatic mosaicism in each tissue, 3) the correlation of the repeat number with pathological severity in Huntington's disease. The CAG repeat number was determined by analysis of the polymerase chain reaction (PCR) product in various tissues ...
KONO, Yasuhisa, AGAWA, Yasuo, WATANABE, Yasuhiro, OHAMA, Eisaku, NANBA, Eiji, NAKASHIMA, Kenji   +5 more
openaire   +3 more sources

An acyclic nucleic acid-modified siRNA targeting CAG expansions for polyglutamine disease treatment

Molecular Therapy: Nucleic Acids
Polyglutamine (polyQ) diseases are inherited neurological disorders caused by an expansion of the cytosine-adenine-guanine (CAG) repeat in the causative genes.
Kentaro Maeda, Tomoki Hirunagi, Kentaro Sahashi, Yukiko Kamiya, Madoka Iida, Kenji Sakakibara, Kazunari Onodera, Manabu Ohyama, Yohei Okada, Hideyuki Okano, Hiroyuki Asanuma, Masahisa Katsuno   +11 more
doaj   +1 more source

Associations of CAG repeat polymorphism in the androgen receptor gene with steroid hormone levels and anthropometrics among men: the role of the ethnic factor

Вавиловский журнал генетики и селекции
Androgens are required for stimulation and maintenance of skeletal growth and bone homeostasis. Physiological functions of androgens are mediated through the androgen receptor (AR). The androgen receptor gene AR has a polymorphic trinucleotide CAG repeat
L. V. Osadchuk, G. V. Vasiliev, A. V. Osadchuk   +2 more
doaj   +1 more source

Huntington's disease iPSC models-using human patient cells to understand the pathology caused by expanded CAG repeats. [PDF]

Fac Rev, 2022
Kaye J, Reisine T, Finkbeiner S.
europepmc   +1 more source

The length of uninterrupted CAG repeats in stem regions of repeat disease associated hairpins determines the amount of short CAG oligonucleotides that are toxic to cells through RNA interference. [PDF]

Cell Death Dis, 2022
Murmann AE, Patel M, Jeong SY, Bartom ET, Jennifer Morton A, Peter ME.   +5 more
europepmc   +1 more source

Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population

Biomedicines
Intermediate CAG expansions in the gene ataxin-2 (ATXN2) are a known risk factor for ALS, but little is known about their role in FTD risk. Moreover, their contribution to the risk and phenotype of patients might vary in populations with different ...
Daniel Borrego-Hernández, Juan Francisco Vázquez-Costa, Raúl Domínguez-Rubio, Laura Expósito-Blázquez, Elena Aller, Ariadna Padró-Miquel, Pilar García-Casanova, María J. Colomina, Cristina Martín-Arriscado, Rosario Osta, Pilar Cordero-Vázquez, Jesús Esteban-Pérez, Mónica Povedano-Panadés, Alberto García-Redondo   +13 more
doaj   +1 more source

"Spazio Huntington": Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats. [PDF]

J Pers Med, 2022
Graziola F, Maffi S, Grasso M, Garone G, Migliore S, Scaricamazza E, Ceccarelli C, Casella M, Busi L, D'Alessio B, De Luca A, Colafati GS, Sabatini U, Capuano A, Squitieri F.   +14 more
europepmc   +1 more source

Method to Introduce Stable, Expanded, Polyglutamine-Encoding CAG/CAA Trinucleotide Repeats into CAG Repeat-Containing Genes [PDF]

BioTechniques, 2001
Michalik, Andrej, Kazantsev, Aleksey, Van Broeckhoven, Christine   +2 more
openaire   +4 more sources