Results 81 to 90 of about 2,432,528 (230)

Crystal structure of the small GTPase Arl6/BBS3 from Trypanosoma brucei [PDF]

, 2012
Arl6/BBS3 is a small GTPase, mutations in which are implicated in the human ciliopathy Bardet–Biedl Syndrome (BBS). Arl6 is proposed to facilitate the recruitment of a large protein complex known as the BBSome to the base of the primary cilium, mediating
Antonny, Ashkenazy, Beck, Beck, Berbari, Bhamidipati, Bond, Branche, Broadhead, Cevik, Chakrabarti, Chiang, Cook, Cowtan, Daumke, Davis, Der, Di Tommaso, Domire, Dundas, Eisenhaber, Emsley, Engstler, Fan, Fliegauf, Forsythe, Gasper, Ginger, Hill, Iqbal, Jin, Kabsch, Keegan, Kobayashi, Krissinel, Krissinel, Loktev, Lu, Maurer-Stroh, McNicholas, Murshudov, Nachury, Nakae, Ou, Panjkovich, Price, Ralston, Rodnina, Scrima, Simarro, Vetter, Vickerman, Vickerman, Vogel, Wei, Wiens, Winn, Wittinghofer, Zhang   +58 more
core   +1 more source

Bardet‐Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best‐practice management

Diabetes, obesity and metabolism
Bardet‐Biedl syndrome (BBS) is a genetic disorder characterized by early‐onset obesity, polydactyly, genital and kidney anomalies, developmental delay and vision loss due to rod‐cone dystrophy.
A. Shoemaker
semanticscholar   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Characterizing the morbid genome of ciliopathies [PDF]

, 2016
Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome ...
A Poretti, AM Fry, AM Waters, Amal Al Hashem, Anas M. Alazami, Anason Halees, Andre Megarbane, Basudha Basu, Brahim Tabarki, C Bergmann, C Knopp, C Wright, CJ Westlake, Clare V. Logan, Colin A. Johnson, DA Parfitt, David A. Parry, Dorota Monies, DU Mick, Eissa Faqeih, F Tissir, Firdous M. Abdulwahab, Fowzan S. Alkuraya, FS Alkuraya, FS Alkuraya, FS Alkuraya, G Wheway, Hadeel Alsharif, Heba Morsy, Hisham Alkuraya, K Szymanska, Karsten Boldt, Katarzyna Szymanska, KB Schou, KL Coene, L Abu-Safieh, L Baala, L Sang, M Toriyama, MA Parisi, Maha Alnemer, Mais Hashem, Marius Ueffing, MG Saudi, MH Farkas, Mohamed Abouelhoda, Mohamed El-Kalioby, Mohammed A. Aldahmesh, Mohammed Al-Owain, Mohammed Zain Seidahmed, MS Zaki, Muneera Al-Husain, Mustafa A. Salih, MV Nachury, Nada Al Tassan, Nada Derar, Neama Meriki, Niema Ibrahim, Nisha Patel, Nour Ewida, P Beales, R Rao Damerla, R Roepman, R Shaheen, Ranad Shaheen, Rawda Sonbul, S Ramsbottom, Saad AlShahwan, Saeed Al Tala, SM Ware, SP Choksi, T Ben‐Omran, Tariq Faquih, TJ Dam van, Y Muto, ZA Abdelhamed   +75 more
core   +1 more source

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

Unraveling the Complexities of Kartagener's Syndrome: A Case of Bronchiectasis, Isolated Dextrocardia, and Primary Ciliary Dyskinesia in an Adult With Chronic Respiratory Symptoms

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Kartagener's Syndrome (KS), a rare autosomal recessive disorder and a subset of Primary Ciliary Dyskinesia (PCD), is characterized by chronic sinusitis, bronchiectasis, and, in approximately 50% of cases, situs inversus. This condition arises from genetic mutations that impair motile cilia function, leading to defective mucociliary clearance ...
Ibrahim Khalil, Sakib Abrar, Shah Tanvir Ahmed, Md. Imran Hossain   +3 more
wiley   +1 more source

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

Genes, 2022
The aim of this study was to characterize the ophthalmic and genetic features of Bardet Biedl (BBS) syndrome in a cohort of patients from a German specialized ophthalmic care center.
Fadi Nasser, S. Kohl, A. Kurtenbach, Melanie Kempf, S. Biskup, Theresia Zuleger, T. Haack, N. Weisschuh, K. Stingl, E. Zrenner   +9 more
semanticscholar   +1 more source

Ciliary Defects in Inherited Retinal Diseases

Advanced Genetics, Volume 7, Issue 1, March 2026.
The photoreceptor cilium is a specialized sensory organelle essential for vision. This review systematically summarizes the structural and functional defects of the cilium that lead to inherited retinal diseases (IRDs). It highlights key pathogenic genes, elucidates molecular mechanisms of degeneration, and evaluates emerging therapeutic strategies ...
Guizhi Guo, Lin Li, Jun Zhou, Jie Ran
wiley   +1 more source

The promoter regions of intellectual disability-associated genes are uniquely enriched in LTR sequences of the MEr41 primate-specific endogenous retrovirus: An evolutionary connection between immunity and cognition [PDF]

, 2019
The Supplementary Material for this article can be found online at: https://www.frontiersin.org/articles/10.3389/fgene.2019.00321/full#supplementary-materialSocial behavior and neuronal connectivity in rodents have been shown to be shaped by the ...
Benítez Burraco, Antonio, Nataf, Serge, Uriagereka, Juan   +2 more
core   +6 more sources

A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome

Biomédica: revista del Instituto Nacional de Salud, 2018
The Bardet-Biedl syndrome is an autosomal recessive hereditary disorder with vast locus heterogeneity that belongs to the so-called ciliopathies, whose proteins are localized in the primary cilia and present functional deficiency.
Luz Yaqueline Ladino, Johanna Galvis, Diana Yasnó, Adriana Ramírez, Orietta Ivonne Beltrán   +4 more
doaj   +1 more source