Results 31 to 40 of about 615 (141)

ALMS1 contributes to centriole proximal architecture and stability

Centrioles are highly organised microtubular scaffolds which grow and mature progressively during successive cell cycles. Their molecular organisation is extensively characterized, yet the contribution of several components to centriole assembly ...
Sarah De Freitas, Maria Giovanna Riparbelli, Giulinao Callaini, Véronique Morel, Marine H Laporte, Bénédicte Durand   +5 more
core   +2 more sources

Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients [PDF]

Genes, 2021
Alström syndrome (ALMS) is an ultrarare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with disease-causing mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes. The symptomatology involves nystagmus, type 2 diabetes mellitus (T2D), obesity, dilated
Brais Bea-Mascato, Carlos Solarat, Irene Perea-Romero, Teresa Jaijo, Fiona Blanco-Kelly, José M. Millán, Carmen Ayuso, Diana Valverde   +7 more
openaire   +4 more sources

Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome

Internal Medicine, 2021
Objective Alström syndrome is an autosomal recessive genetic disease caused by a mutation in the ALMS1 gene. Alström syndrome is clinically characterized by multisystem involvement, including sensorineural deafness, cone-rod dystrophy, nystagmus, obesity, insulin resistance, type 2 diabetes and hypogonadism.
Wang, Chunmei, Luo, Xiaona, Wang, Yilin, Liu, Zhao, Wu, Shengnan, Wang, Simei, Lan, Xiaoping, Xu, Quanmei, Xu, Wuhen, Yuan, Fang, Wang, Anqi, Zeng, Fanyi, Jia, Jia, Chen, Yucai   +13 more
openaire   +3 more sources

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy [PDF]

Journal of Medical Genetics, 2005
As part of a clinical study of Alstrom syndrome (MIM 203800) we sequentially ascertained seven families. Four of the families, pedigrees A–D (table 1), were consanguineous. In total there were 16 living affected individuals, aged 3–25 years. All had cone rod dystrophy that presented in the first 3 months of life with photophobia and nystagmus. The cone
Bond, J, Flintoff, K, Higgins, J, Scott, S, Bennet, C, Parsons, J, Mannon, J, Jafri, H, Rashid, Y, Barrow, M, Trembath, R, Woodruff, G, Rossa, E, Lynch, S, Sheilds, J, Newbury-Ecob, R, Falconer, A, Holland, P, Cockburn, D, Karbani, G, Malik, S, Ahmed, M, Roberts, E, Taylor, G, Woods, C G   +24 more
openaire   +3 more sources

Identification of a novel ALMS1 mutation in a Chinese family with Alström syndrome [PDF]

Eye, 2008
To report a novel mutation of ALMS1 in a Chinese family with Alström syndrome.Observational case report and results of DNA analysis.A family including one patient and four unaffected relatives was examined clinically. One hundred normal Chinese individuals served as control subjects.
L, Liu, B, Dong, X, Chen, J, Li, Y, Li
openaire   +2 more sources

Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy [PDF]

Disease Models & Mechanisms
Alström Syndrome (AS), a multisystem disorder caused by biallelic ALMS1 mutations, features major early morbidity and mortality due to cardiac complications.
Eleanor J. McKay, Ineke Luijten, Sophie Broadway-Stringer, Adrian Thomson, Xiong Weng, Katya Gehmlich, Gillian A. Gray, Robert K. Semple   +7 more
doaj   +2 more sources

Mechanisms underlying cardiometabolic complications of Alström Syndrome [PDF]

, 2023
Alström Syndrome (AS) is a rare autosomal recessive disease featuring early onset, severely insulin resistant diabetes, fatty liver and heart failure among other characteristics.
McKay, Eleanor Jane
core   +1 more source

High Prevalence Mutations in ALMS1 in Spanish Alström Patients [PDF]

, 2020
Abstract Background:Alström syndrome (ALMS) is a rare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes.
Brais Bea Mascato, Carlos López Solarat, Irene Perea Romeo, Teresa Jaijo, Fiona Blanco Kelly, Carmen Ayuso, Diana Valverde   +6 more
openaire   +1 more source

Unique phenotypic–genotypic correlation in Saudi patients with ALMS1 mutations

Saudi Journal of Ophthalmology, 2023
Abstract Mutations in the ALMS1 gene have been linked to isolated inherited retinal dystrophy or Alström syndrome. This report illustrates the unique pattern of ALMS1-associated diseases in a set of three simplex Saudi patients originating from unrelated consanguineous families.
openaire   +2 more sources

RNAseq in fat pads from Alstrom syndrome 1 (ALMS1) Knockout rats support a role for ALMS1 in leptin release and fat metabolism in adipocytes.

The FASEB Journal, 2020
Inactivating mutations in the ALMS1 gene in humans cause early onset obesity and metabolic syndrome. Deletion of ALMS1 in rodents induces early onset obesity and insulin resistance on normal chow. The mechanisms by which ALMS1 cause obesity are not clear but likely involve the development
Victoria C. Ortiz, Tandong Liao, Mariela Mendez, Pablo A. Ortiz   +3 more
openaire   +1 more source