Results 31 to 40 of about 1,999 (178)

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts

EBioMedicine, 2021
Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy ...
Jonathan Eintracht, Elizabeth Forsythe, Helen Louise May-Simera   +2 more
exaly   +3 more sources

Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria [PDF]

European Journal of Medical Genetics, 2014
We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dilated cardiomyopathy and retinopathy. A diagnosis of Alström Syndrome (AS) was considered and diagnostic testing pursued.
Brosnahan, Donal, Casey, Jillian, McGettigan, Paul A., et al.   +3 more
core   +7 more sources

Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report [PDF]

BMC Pediatrics
Background Alström syndrome (AS) is a rare autosomal recessive disorder that leads to multiple organ fibrosis and failure. Precise diagnosis from the clinical symptoms is challenging due to its highly variabilities and its frequent confusion with other ...
Ming Hu, Shuang Chen, Jinyuan Wu, Rong Wang   +3 more
doaj   +2 more sources

Evaluation of the Oral Microbiome in Patients with Alström and Bardet-Biedl Syndromes and Their Heterozygous Family Members [PDF]

Microorganisms
Alström (ALMS) and Bardet-Biedl syndromes (BBS) are rare ciliopathies characterized by obesity and hyperglycemia that lead to type 2 diabetes, but also other disorders, including neurodegeneration.
Ewa Zmysłowska-Polakowska, Tomasz Płoszaj, Sebastian Skoczylas, Julia Grzybowska-Adamowicz, Aleksandra Palatyńska-Ulatowska, Monika Łukomska-Szymańska, Agnieszka Zmysłowska   +6 more
doaj   +2 more sources

Multi-matrix metabolomics in rare monogenic diabetes syndromes: Analysis of oral fluids and serum in carriers of pathogenic variants in the ALMS1/BBS genes [PDF]

Computational and Structural Biotechnology Journal
Metabolomic profiling enables the identification of specific biochemical alterations in various diseases, including rare monogenic diabetes and obesity syndromes such as Alström syndrome (ALMS) and Bardet–Biedl syndrome (BBS).
Ewa Zmysłowska-Polakowska, Patrycja Mojsak, Sebastian Skoczylas, Krzysztof Sołowiej, Sandra Chmielewska, Julia Grzybowska-Adamowicz, Aleksandra Palatynska-Ulatowska, Monika Lukomska-Szymanska, Adam Kretowski, Agnieszka Zmysłowska, Michał Ciborowski   +10 more
doaj   +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

Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity. [PDF]

Obesity (Silver Spring)
ABSTRACT Objective Pathogenic variants in five established leptin‐melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early‐onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Methods Next‐
Faccioli N, Poitou C, Georget M, Bertin F, Azar-Kolakez A, Carette C, Faucher P, Gatta-Cherifi B, Gonneau-Lejeune J, Linglart A, Clément K, Le Beyec‐Le Bihan J, Dubern B.   +12 more
europepmc   +2 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

Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis

Human Genome Variation, 2021
Leber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease. The current study describes exome sequencing results for two unrelated Indian LCA patients carrying novel nonsense p.(Glu636*) and frameshift p.(Pro2281Leufs ...
Natarajan N. Srikrupa, Sarangapani Sripriya, Suriyanarayanan Pavithra, Parveen Sen, Ravi Gupta, Sinnakaruppan Mathavan   +5 more
doaj   +1 more source

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