Results 61 to 70 of about 2,432,528 (230)

Meta‐analysis of genotype‐phenotype associations in Bardet‐Biedl syndrome uncovers differences among causative genes

Human Mutation, 2019
Bardet‐Biedl syndrome (BBS) is a recessive genetic disease causing multiple organ anomalies. Most patients carry mutations in genes encoding for the subunits of the BBSome, an octameric ciliary transport complex, or accessory proteins involved in the ...
V. Niederlova, Martin Modrák, Oksana Tsyklauri, Martina Huranová, Ondřej Štěpánek   +4 more
semanticscholar   +1 more source

Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self‐tolerance

EMBO Reports, 2021
Bardet–Biedl Syndrome (BBS) is a pleiotropic genetic disease caused by the dysfunction of primary cilia. The immune system of patients with ciliopathies has not been investigated.
Oksana Tsyklauri, V. Niederlova, E. Forsythe, Avishek Prasai, A. Drobek, P. Kašpárek, K. Sparks, Z. Trachtulec, J. Procházka, R. Sedláček, P. Beales, Martina Huranová, Ondřej Štěpánek   +12 more
semanticscholar   +1 more source

The efficacy and safety of setmelanotide in individuals with Bardet-Biedl syndrome or Alström syndrome: Phase 3 trial design

Contemporary Clinical Trials Communications, 2021
Background A phase 2 trial has suggested that treatment with the melanocortin-4 receptor (MC4R) agonist setmelanotide is associated with a decrease in hunger and weight-related outcomes in participants with Bardet-Biedl syndrome (BBS) and Alström ...
R. Haws, Gregory Gordon, Joan C. Han, J. Yanovski, G. Yuan, M. Stewart   +5 more
semanticscholar   +1 more source

BARDET-BIEDL SYNDROME – CASE PRESENTATION [PDF]

Romanian Journal of Pediatrics, 2015
Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight ...
Sorin Ioan Iurian, Heleen Arts, Han Brunner, Dana Fintina   +3 more
doaj   +1 more source

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. [PDF]

, 2016
Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity.
Andréasson, S., Arsenijevic, Y., Balzano, S., Bedoni, N., Blazaki, S.V., Boldt, K., Cisarova, K., Cremers, F.P., Decembrini, S., Di Gioia, S.A., El Zaoui, I., Farinelli, P., Giangreco, B., Khan, M.I., Kjellström, U., Mbefo, M.K., Messina, A., Micheal, S., Moulin, A.P., Nikopoulos, K., Plainis, S., Rivolta, C., Roepman, R., Royer-Bertrand, B., Tsika, C., Tsilimbaris, M.K., Ueffing, M.   +26 more
core   +8 more sources

Additional file 1: of Mutation profile of BBS genes in patients with Bardetâ Biedl syndrome: an Italian study

, 2019
Table S1. List of genes in the NGS panel. Table S2. Distribution of BBS diagnostic criteria in patients with molecular diagnosis. Table S3. Clinical manifestations of Bardet-Biedl syndrome patients with unresolved genotype. Abbreviations: M, male; F, female; yrs., years; mo, months; RP retinitis pigmentosa; CRD, cone-rod dystrophy; HM, high myopia; O ...
Manara, Elena, Paolacci, Stefano, D’Esposito, Fabiana, Abeshi, Andi, Ziccardi, Lucia, Falsini, Benedetto, Colombo, Leonardo, Iarossi, Giancarlo, Pilotta, Alba, Boccone, Loredana, Guerri, Giulia, Monica, Marica, Balzarini Marta, Maltese, Paolo, Buzzonetti, Luca, Rossetti, Luca, Bertelli, Matteo   +16 more
openaire   +1 more source

Bardet‐Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome

Pediatric obesity, 2020
Bardet‐Biedl syndrome (BBS) is a rare genetic disorder that severely inhibits primary cilia function. BBS is typified by obesity in adulthood, but pediatric weight patterns, and thus optimal periods of intervention, are poorly understood.
J. Pomeroy, Anthony D. Krentz, Jesse G Richardson, R. Berg, Jeffrey J. Vanwormer, R. Haws   +5 more
semanticscholar   +1 more source

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees

Genes, 2023
This study aimed to find the molecular basis of Bardet-Biedl syndrome (BBS) in Pakistani consanguineous families. A total of 12 affected families were enrolled. Clinical investigations were performed to access the BBS-associated phenotypes.
A. R. Rao, A. Nazir, Samina Imtiaz, S. A. Paracha, Y. M. Waryah, I. Ujjan, Ijaz Anwar, Afia Iqbal, F. Santoni, Inayat Shah, Khitab Gul, Hafiz Muhammad Azhar Baig, A. M. Waryah, S. Antonarakis, Muhammad Ansar   +14 more
semanticscholar   +1 more source

Hedgehog Pathway Activation Alters Ciliary Signaling in Primary Hypothalamic Cultures [PDF]

, 2019
Primary cilia dysfunction has been associated with hyperphagia and obesity in both ciliopathy patients and mouse models of cilia perturbation. Neurons throughout the brain possess these solitary cellular appendages, including in the feeding centers of ...
Antonellis, Patrick J., Bansal, Ruchi, Baucum, Anthony J., Berbari, Nicolas F., Cummins, Theodore R., Engle, Staci E., Reiter, Jeremy F., Whitehouse, Logan S.   +7 more
core   +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