Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Elizabeth, Forsythe"'
Autor:
Elizabeth Forsythe, Usha G. Mallya, Min Yang, Caroline Huber, Mary Lynn Cala, Alexandra Greatsinger, Ella Hagopian, Jeremy Pomeroy, Andrea M. Haqq
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Bardet-Biedl syndrome (BBS) is a rare, genetically heterogeneous obesity syndrome associated with hyperphagia. Given the early onset of BBS symptoms in childhood and multifaceted complications, this study aimed to quantify the car
Externí odkaz:
https://doaj.org/article/13858c5d51db43c5b28162d8281e35cc
Autor:
Elizabeth Forsythe, Usha G. Mallya, Min Yang, Caroline Huber, Mary Lynn Cala, Alexandra Greatsinger, Ella Hagopian, Jeremy Pomeroy, Andrea M. Haqq
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Signs and symptoms of Bardet–Biedl syndrome (BBS) occur during early childhood, progress over time, and place substantial, multifaceted burden on patients and their caregivers. Hyperphagia may be a contributing factor to early-o
Externí odkaz:
https://doaj.org/article/b0b9f9b20aad497f8d8c3b210f153398
Autor:
Elizabeth Forsythe, Robert M. Haws, Jesús Argente, Philip Beales, Gabriel Á. Martos-Moreno, Hélène Dollfus, Costel Chirila, Ari Gnanasakthy, Brieana C. Buckley, Usha G. Mallya, Karine Clément, Andrea M. Haqq
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Bardet–Biedl syndrome is a rare genetic disease associated with hyperphagia and early-onset, severe obesity. There is limited evidence on how hyperphagia and obesity affect health-related quality of life in patients with Bardet
Externí odkaz:
https://doaj.org/article/95baf4bee81746aaaf9b8a040bb3a09a
Publikováno v:
EBioMedicine, Vol 70, Iss , Pp 103515- (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 dystro
Externí odkaz:
https://doaj.org/article/17b83887edb04500b767d0d8aaafffeb
Autor:
Andrea M, Haqq, Wendy K, Chung, Hélène, Dollfus, Robert M, Haws, Gabriel Á, Martos-Moreno, Christine, Poitou, Jack A, Yanovski, Robert S, Mittleman, Guojun, Yuan, Elizabeth, Forsythe, Karine, Clément, Jesús, Argente
Publikováno v:
The Lancet Diabetes & Endocrinology. 10:859-868
Impaired cilial signalling in the melanocortin-4 receptor (MC4R) pathway might contribute to obesity in patients with Bardet-Biedl syndrome and Alström syndrome, rare genetic diseases associated with hyperphagia and early-onset severe obesity. We ai
Autor:
Andrea M. Haqq, Wendy Chung, Helene Dollfus, Anoop Iqbal, Martos-Moreno Gabriel A., Christine Poitou, Jack A. Yanovski, Sonali Malhotra, Paul Miller, Guojun Yuan, Elizabeth Forsythe, Karine Clement, Jesus Argente
Publikováno v:
Endocrine Abstracts.
Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
Autor:
Naila Haq, Christoph Schmidt-Hieber, Fernando J Sialana, Lorenza Ciani, Janosch P Heller, Michelle Stewart, Liz Bentley, Sara Wells, Richard J Rodenburg, Patrick M Nolan, Elizabeth Forsythe, Michael C Wu, Gert Lubec, Patricia C Salinas, Michael Häusser, Philip L Beales, Sofia Christou-Savina
Publikováno v:
PLoS Biology, Vol 17, Iss 10, p e3000520 (2019)
[This corrects the article DOI: 10.1371/journal.pbio.3000414.].
Externí odkaz:
https://doaj.org/article/e9e4591deded4a4d8c04f40819a54f18
Autor:
Naila Haq, Christoph Schmidt-Hieber, Fernando J Sialana, Lorenza Ciani, Janosch P Heller, Michelle Stewart, Liz Bentley, Sara Wells, Richard J Rodenburg, Patrick M Nolan, Elizabeth Forsythe, Michael C Wu, Gert Lubec, P Salinas, Michael Häusser, Philip L Beales, Sofia Christou-Savina
Publikováno v:
PLoS Biology, Vol 17, Iss 9, p e3000414 (2019)
Bardet-Biedl syndrome (BBS), a ciliopathy, is a rare genetic condition characterised by retinal degeneration, obesity, kidney failure, and cognitive impairment. In spite of progress made in our general understanding of BBS aetiology, the molecular an
Externí odkaz:
https://doaj.org/article/476db0f2540d4ebfa5d72cbe98ee01fd
Publikováno v:
Frontiers in Pediatrics, Vol 6 (2018)
Bardet–Biedl syndrome is a rare autosomal recessive multisystem disorder caused by defects in genes encoding for proteins that localize to the primary cilium/basal body complex. Twenty-one disease-causing genes have been identified to date. It is o
Externí odkaz:
https://doaj.org/article/fc765c10dfe2480eb044a7883feb5da1
Autor:
Jesús Argente, Philip Beales, Karine Clément, Hélène Dollfus, Elizabeth Forsythe, Andrea Haqq, Robert Haws, Gabriel Martos-Moreno, Robert Mittleman, Jack Yanovski, Guojun Yuan, Wendy Chung
Publikováno v:
Journal of the Endocrine Society. 6:A14-A14
Objective Bardet-Biedl syndrome (BBS) is a rare genetic disease characterized by hyperphagia (pathologic insatiable hunger) and early-onset, severe obesity believed to be driven by impaired signaling in the melanocortin-4 receptor (MC4R) pathway. In