Results 111 to 120 of about 2,432,528 (230)

Hyperactive neuroendocrine secretion causes size, feeding, and metabolic defects of C. elegans Bardet-Biedl syndrome mutants. [PDF]

PLoS Biology, 2011
Bardet-Biedl syndrome, BBS, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, obesity, short stature, cognitive impairment, and developmental delays.
Brian H Lee, Jason Liu, Daisy Wong, Supriya Srinivasan, Kaveh Ashrafi   +4 more
doaj   +1 more source

Six Years of Genetic Diagnosis of Severe Early‐Onset Obesity in a French Cohort

Obesity Science &Practice, Volume 11, Issue 6, December 2025.
ABSTRACT Objective Obesity is a multifactorial disease with a strong genetic component. It is imperative to enhance the identification of genetic variations in their early and severe manifestations in order to facilitate the development of personalized therapeutic strategies, informed clinical care, and the facilitation of genetic counseling.
M. Rama, E. Blond, A. Janin, M. Di‐Filippo, C. Cuerq, O. Marmontel, P. A. Rollat‐Farnier, E. Dieterlen, B. Segrestin, M. Nicolino, E. Disse, K. Perge, D. Collin‐Chavagnac   +12 more
wiley   +1 more source

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

Visual acuity and retinal function in patients with Bardet-Biedl syndrome

Clinics, 2012
OBJECTIVE: Bardet-Biedl syndrome is a genetic, multisystem disorder that causes severe visual impairment. This condition is characterized by retinal dystrophy, obesity, digit anomalies, renal disease, and hypogonadism.
Adriana Berezovsky, Daniel Martins Rocha, Paula Yuri Sacai, Sung Song Watanabe, Nívea Nunes Cavascan, Solange Rios Salomão   +5 more
doaj   +1 more source

A rare case of Bardet–Biedl syndrome

Taiwan Journal of Ophthalmology, 2020
We report here a rare case of Bardet–Biedl syndrome (BBS). A 7-year-old boy was diagnosed to have BBS based on the clinical features: retinitis pigmentosa sine pigmento, obesity, postaxial polydactyly, syndactyly, and hypogenitalism.
Shrinkhal, Anupam Singh, Ajai Agrawal, Sanjeev Kumar Mittal, Hemlata Udenia, Ghawghawe Harshad Bandu   +5 more
doaj   +1 more source

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

Clinical Genetics, Volume 108, Issue 6, Page 696-707, December 2025.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam, Clarisse Delvallée, Bénédicte Gérard, Elodie Javey, Pascal Kessler, Valérie Pelletier, Jean‐Baptiste Lamouche, Nicolas Le May, Jean Muller, Hélène Dollfus   +9 more
wiley   +1 more source

Zebrafish: a vertebrate tool for studying basal body biogenesis, structure, and function. [PDF]

, 2016
Understanding the role of basal bodies (BBs) during development and disease has been largely overshadowed by research into the function of the cilium.
A Borovina, A Borovina, A Dauber, A Hansen, A Mahuzier, A Nasevicius, A Rodrigues-Martins, AG Kramer-Zucker, AK Maurya, BB Beck, BM McCluskey, BP Culver, C Jones, C Novorol, C Stoetzel, C Stoetzel, C Zhang, CC Leitch, CF Chakarova, CG Pearson, CJ Westlake, CJ Wilkinson, CL Kilburn, CP Toret, D Epting, DA Dehring, DF Carlson, DK Clare, DP Osborn, DY Nishimura, DY Stainier, EA Otto, ET Lim, F Zhou, FA Ran, FO Kok, G Golling, GG Slaats, H Khanna, H Zhao, IA Drummond, IJ Winfield, J Ablain, J Heasman, J Yang, JA Deane, JA Sayer, JB Li, JC Stinchcombe, JC Talbot, JD Wood, JE Lee, JS Eisen, JS Nelson, K Howe, K Joo, KD Poss, KL Pfaff, KM Nishiguchi, L He, L Ma, LC Keller, LC Keller, LE Jao, LM Baye, M Breugel van, M Dona, M Tsujikawa, ME Hodges, MH Al-Hamed, MP Dekens, N Pathak, P Haffter, P Strnad, Q Lu, R Dosch, R Simms, RD Allen, S Geimer, S Leidel, S Li, S Nair, S Roosing, SM Glasauer, SY Tay, T Avidor-Reiss, T Yabe, TJ Dam van, TJ Near, V Ravi, VM Bedell, W Driever, X Shu, Y Chen, Y Nakazawa, Y Omori, YK Durlu   +96 more
core   +1 more source

The Genetic Blueprint of Obesity: From Pathogenesis to Novel Therapies

Obesity Reviews, Volume 26, Issue 12, December 2025.
ABSTRACT Obesity is a chronic metabolic disease characterized by disturbances in energy homeostasis, leading to excessive fat accumulation. The pathogenesis of the disease is shaped by a complex interplay of genetic, epigenetic, biological, psychological, and environmental factors.
Gašper Tonin, Stjepan Eržen, Zala Mlinarič, Dubravka Jurišić Eržen, Simon Horvat, Tanja Kunej, Jasna Klen   +6 more
wiley   +1 more source

ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies [PDF]

, 2014
Renal cysts are clinically and genetically heterogeneous conditions. Polycystic kidney disease (PKD) is common and its characterization has paved the way for the identification of a growing number of cilia-related disorders (ciliopathies) of which most ...
Carsten Bergmann
core   +1 more source

Partial Atrioventricular Septal Defect in a Case of Bardet-Biedl Syndrome: A Rare Association

Acta Medica Iranica
Bardet-Biedl syndrome (BBS) (MIM 209900) is a genetic disorder with a wide spectrum of clinical manifestations including retinal dystrophy, hypogenitalism, polydactyly, obesity, renal abnormalities and mental retardation. We describe a 13-year-old girl,
Mohaddeseh Behjati, Fatemeh Tohidi, Mohammad Karimian   +2 more
doaj   +1 more source