Results 81 to 90 of about 2,447,712 (252)

A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever [PDF]

, 2014
BACKGROUND: Generalized progressive retinal atrophy (PRA) is a group of inherited eye diseases characterised by progressive retinal degeneration that ultimately leads to blindness in dogs. To date, more than 20 different mutations causing canine-PRA have
Berit Wallin-Håkansson, Cathryn S Mellersh, Louise M Downs, Tomas Bergström   +3 more
core   +1 more source

Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants

American Journal of Medical Genetics. Part A, 2023
Bardet‐Biedl syndrome (BBS), is an emblematic ciliopathy hallmarked by pleiotropy, phenotype variability, and extensive genetic heterogeneity. BBS is a rare (~1/140,000 to ~1/160,000 in Europe) autosomal recessive pediatric disorder characterized by ...
Sheraz Khan, I. Focșa, M. Budisteanu, Cristina Stoica, F. Nedelea, L. Bohiltea, L. Caba, L. Butnariu, M. Pânzaru, C. Rusu, Claudia Jurca, A. Chiriță-Emandi, C. Bănescu, Wasim Abbas, A. Sadeghpour, S. Baig, M. Bălgrădean, Erica E. Davis   +17 more
semanticscholar   +1 more source

Amylin analogues as a novel perspective in anti‐obesity therapy

British Journal of Pharmacology, EarlyView.
Abstract Public health systems face a major challenge because of the worldwide obesity epidemic. The number of obese individuals has increased dramatically and, even in Switzerland which may be considered a relatively “lean” country, the numbers are alarmingly high and have reached almost 50% of the adult population.
Thomas A. Lutz
wiley   +1 more source

Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome

Case Reports in Ophthalmological Medicine, 2022
Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies.
Roghayeh Dehghan, Mahdiyeh Behnam, Mansoor Salehi, Roya Kelishadi   +3 more
doaj   +1 more source

Generation of a human iPSC line from a Bardet-Biedl syndrome patient compound heterozygous for the BBS7 variants c.849 + 1G > C/c.754G > A

Stem Cell Research, 2021
Bardet-Biedl syndrome (BBS) is primarily a multisystem nonmotile ciliopathy. In this study, we describe the successful establishment and characterization of an iPSC line from a patient diagnosed with BBS who was compound heterozygous for the BBS7 ...
Qian Fu, Hui Wang, Nan Zhou, Yeping Jiang, Ying Liang, Fan Duan, Lan Mi   +6 more
doaj   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy

Clinical Genetics, EarlyView.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source

Case Study of Bardet-Biedl Syndrome with Fetal Lobulation and Focal Segmental Glomerulosclerosis

Endocrinology Research and Practice, 2008
Bardet-Biedl syndrome is a genetic autosomal recessive disease characterized by abdominal obesity, mental retardation, dysmorphic extremities, retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism, and kidney involvement.
Yılmaz Tabel, İlke Mungan Akın, Neşe Karadağ, Ayşehan Akıncı   +3 more
doaj   +2 more sources

Whole exome sequencing of extreme morbid obesity patients: translational implications for obesity and related disorders [PDF]

, 2014
Whole-exome sequencing (WES) is a new tool that allows the rapid, inexpensive and accurate exploration of Mendelian and complex diseases, such as obesity. To identify sequence variants associated with obesity, we performed WES of family trios of one male
Arcos-Burgos, M., Boguszewski, C., Boguszewski, M., Chuah, A., Huttley, G., Johar, A., Licinio, J., Mastronardi, C., Patel, H., Paz-Filho, G., Wong, M.   +10 more
core   +2 more sources

Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model

Molecular Therapy: Nucleic Acids, 2022
Blindness in Bardet-Biedl syndrome (BBS) is caused by dysfunction and loss of photoreceptor cells in the retina. BBS10, mutations of which account for approximately 21% of all BBS cases, encodes a chaperonin protein indispensable for the assembly of the ...
Ying Hsu, Sajag Bhattarai, Jacob M. Thompson, Angela Mahoney, Jacintha Thomas, Sara K. Mayer, Poppy Datta, Janelle E Garrison, C. Searby, L. Vandenberghe, Seongjin Seo, V. Sheffield, A. Drack   +12 more
semanticscholar   +1 more source