Results 31 to 40 of about 11,861 (217)

A mouse model of spinal and bulbar muscular atrophy [PDF]

Human Molecular Genetics, 2002
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset motor neuron disease, caused by the expansion of a trinucleotide repeat (TNR) in exon 1 of the androgen receptor (AR) gene. This disorder is characterized by degeneration of motor and sensory neurons, proximal muscular atrophy, and endocrine abnormalities, such as gynecomastia and reduced ...
Patrick, McManamny, Hun S, Chy, David I, Finkelstein, Rebecca G, Craythorn, Peter J, Crack, Ismail, Kola, Surindar S, Cheema, Malcolm K, Horne, Nigel G, Wreford, Moira K, O'Bryan, David M, De Kretser, John R, Morrison   +11 more
openaire   +2 more sources

Hypospadias as a novel feature in spinal bulbar muscle atrophy [PDF]

, 2016
Spinal and bulbar muscle atrophy (SBMA) is an X-linked neuromuscular disorder caused by CAG repeat expansions in the androgen receptor (AR) gene.
Almqvist, C., Frisén, L., Nordenskjöld, A., Nordenström, A., Nordenvall, A.S., Paucar, M.   +5 more
core   +1 more source

Expression of Human Endogenous Retrovirus-K in Spinal and Bulbar Muscular Atrophy. [PDF]

Front Neurol, 2019
Rex C, Nadeau MJ, Douville R, Schellenberg K.   +3 more
europepmc   +3 more sources

Esclerose lateral amiotrófica: considerações sobre critérios diagnósticos [PDF]

, 2010
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder, compromising the motor neuron, characterized by progressive muscle weakness, with reserved prognosis. The diagnosis is based on inclusion and exclusion clinical criteria, since there is
Chieia, Marco A., Gabbai, Alberto Alain, Oliveira, Acary Souza Bulle, Silva, Helga Cristina Almeida da   +3 more
core   +3 more sources

Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy [PDF]

Hormones and Behavior, 2008
Kennedy Disease/Spinal Bulbar Muscular Atrophy (KD/SBMA) is a progressive neurodegenerative disease caused by genetic polyglutamine expansion of the androgen receptor. We have recently found that overexpression of wildtype androgen receptor in skeletal muscle of transgenic mice results in a KD/SBMA phenotype.
Douglas Ashley, Monks, Pengcheng, Rao, Kaiguo, Mo, Jamie Ann, Johansen, Gareth, Lewis, Michael Quentin, Kemp   +5 more
openaire   +2 more sources

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
core   +1 more source

Developing treatment for spinal and bulbar muscular atrophy [PDF]

Progress in Neurobiology, 2012
Spinal and bulbar muscular atrophy is unique among the polyglutamine diseases in that the toxicity of the mutant protein, the androgen receptor, is ligand-dependent. In cell culture and animal models the mutant androgen receptor causes protein aggregation and alterations in transcriptional regulation, axonal transport, and mitochondrial function ...
openaire   +2 more sources

Founder effect in spinal and bulbar muscular atrophy (SBMA) [PDF]

Human Molecular Genetics, 1996
We analyzed the polymorphic (CAG)n and (GGC)n repeats of the androgen receptor gene in 113 unrelated X-linked spinal and bulbar muscular atrophy (SBMA) X chromosomes and 173 control X chromosomes in Japanese males. The control chromosomes had an average CAG repeat number of 21 +/- 3 with a range from 14-32 repeat units, and SBMA chromosomes had a range
F, Tanaka, M, Doyu, Y, Ito, M, Matsumoto, T, Mitsuma, K, Abe, M, Aoki, Y, Itoyama, K H, Fischbeck, G, Sobue   +9 more
openaire   +2 more sources

Pathogenesis of proximal autosomal recessive spinal muscular atrophy [PDF]

, 2008
Although it is known that deletions or mutations of the SMN1 gene on chromosome 5 cause decreased levels of the SMN protein in subjects with proximal autosomal recessive spinal muscular atrophy (SMA), the exact sequence of pathological events leading to ...
Šimić, Goran
core   +1 more source

Androgen receptor mutations [PDF]

, 1995
Male sexual differentiation and development proceed under direct control of androgens. Androgen action is mediated by the intracellular androgen receptor, which belongs to the superfamily of ligand-dependent transcription factors.
Boehmer, A.L.M. (Annemie), Brinkmann, A.O. (Albert), Brüggenwirth, H.T. (Hennie), Jenster, G.W. (Guido), Korput, J.A.G.M. (J. A G M) van der, Ris-Stalpers, C. (Carolyn), Trapman, J. (Jan)   +6 more
core   +1 more source