Results 51 to 60 of about 2,447,712 (252)

Laurence-Moon-Bardet-Biedl Syndrome

Journal of Nepal Medical Association, 2008
Laurence-Moon-Bardet-Biedl syndrome is a rare, genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression.
JK Sahu, Vandana Jain
doaj   +1 more source

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome [PDF]

, 2016
Background: Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion.
Aymé, Ségolène, Barrett, Timothy G., Farmer, Amy, López de Heredia, Miguel, Maffei, Pietro, McCafferty, Susan, Młynarski, Wojciech, Nunes Martínez, Virginia, Paquis-Flucklinger, Véronique, Parkinson, Kay, Rohayem, Julia, Sinnott, Richard, Tillmann, Vallo, Tranebjærg, Lisbeth   +13 more
core   +1 more source

Bardet–Biedl Syndrome—Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype–Phenotype Correlations

Genes, 2021
Bardet–Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement and autosomal recessive inheritance. The clinical picture is extremely polymorphic.
L. Florea, L. Caba, E. Gorduza
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

Bardet-Biedl Syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons.

Journal of Clinical Investigation, 2021
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder caused by mutations in genes encoding components of the primary cilium and characterized by hyperphagic obesity. To investigate the molecular basis of obesity in human BBS, we developed a
Liheng Wang, Yang Liu, G. Stratigopoulos, Sunil K. Panigrahi, Lina Sui, Yiying Zhang, C. Leduc, Hannah J. Glover, M. D. De Rosa, Lisa C. Burnett, Damian J. Williams, Linshan Shang, R. Goland, S. Tsang, S. Wardlaw, D. Egli, D. Zheng, Claudia A. Doege, R. Leibel   +18 more
semanticscholar   +1 more source

Functional modelling of a novel mutation in BBS5. [PDF]

, 2014
BACKGROUND: Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy disorder with 18 known causative genes (BBS1-18). The primary clinical features are renal abnormalities, rod-cone dystrophy, post-axial polydactyly, learning difficulties ...
Al-Fadhly, F., Al-Hamed, M.H., Chrystal, P., El Sayed, R., Eley, L., Hynes, A.M., Meyer, B., Sayer, J.A., Simms, R.J., van Lennep, C.   +9 more
core   +2 more sources

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

npj Genomic Medicine, 2022
Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by extensive inter- and intra-familial variability, in which oligogenic interactions have been also reported.
I. Perea-Romero, C. Solarat, F. Blanco-Kelly, I. Sánchez-Navarro, Brais Bea-Mascato, Eduardo Martin-Salazar, I. Lorda‐Sánchez, S. Swafiri, A. Avila-Fernandez, I. Martín-Mérida, M. Trujillo-Tiebas, E. Carreño, B. Jimenez-Rolando, B. García‐Sandoval, P. Mínguez, M. Cortón, D. Valverde, C. Ayuso   +17 more
semanticscholar   +1 more source

A systems-biology approach to understanding the ciliopathy disorders. [PDF]

, 2011
'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
core   +1 more source

A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome

Case Reports in Ophthalmology, 2015
Bardet-Biedl syndrome is a continuum of disorders characterized by systemic and ocular findings. Retinal abnormalities typically present as diffuse photoreceptor degeneration.
Cynthia S. Chiu, Dimosthenis Mantopoulos, Simmons Lessell, Dean M. Cestari   +3 more
doaj   +1 more source

Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do

Journal of Multidisciplinary Healthcare, 2022
Bardet – Biedl syndrome is a rare autosomal recessive multisystem non-motile ciliopathy. It has heterogeneous clinical manifestations. It is caused by mutations in 26 genes encoding BBSome proteins, chaperonines, and IFT complex.
L. Caba, L. Florea, E. Braha, V. Lupu, E. Gorduza   +4 more
semanticscholar   +1 more source