Results 91 to 100 of about 2,432,528 (230)

Bangladeshi Case Series of Bardet–Biedl Syndrome

Case Reports in Ophthalmological Medicine, 2023
A rare multisystemic, ciliopathic autosomal recessive disorder called Bardet–Biedl syndrome (BBS) primarily affects children of consanguineous marriages. Both men and women are affected by it.
Fariah Osman, Md Iftekher Iqbal, M. Nazrul Islam, Syed Jahangir Kabir   +3 more
doaj   +1 more source

Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model

Molecular Therapy: Nucleic Acids, 2022
Blindness in Bardet-Biedl syndrome (BBS) is caused by dysfunction and loss of photoreceptor cells in the retina. BBS10, mutations of which account for approximately 21% of all BBS cases, encodes a chaperonin protein indispensable for the assembly of the ...
Ying Hsu, Sajag Bhattarai, Jacob M. Thompson, Angela Mahoney, Jacintha Thomas, Sara K. Mayer, Poppy Datta, Janelle E Garrison, C. Searby, L. Vandenberghe, Seongjin Seo, V. Sheffield, A. Drack   +12 more
semanticscholar   +1 more source

Motile cilia defects in diseases other than primary ciliary dyskinesia:The contemporary diagnostic and research role for transmission electron microscopy [PDF]

, 2017
Ultrastructural studies have underpinned the cell biological and clinical investigations of the varied roles of motile cilia in health and disease, with a long history since the 1950s.
Afzelius BA, Amelia Shoemark, Hannah M Mitchison, Harrison MJ, Hirst R, Murcia NS, Piorunek T   +6 more
core   +3 more sources

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, Volume 109, Issue 3, Page 424-436, March 2026.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

A Genotype–Phenotype Analysis of the Bardet–Biedl Syndrome in Puerto Rico

Clinical Ophthalmology, 2021
Gabriel A Guardiola,1 Fabiola Ramos,2 Natalio J Izquierdo,3 Armando L Oliver2 1Department of Medicine, Universidad Central del Caribe School of Medicine, Bayamon, PR, USA; 2Department of Ophthalmology, University of Puerto Rico School of Medicine ...
Guardiola GA, Ramos F, Izquierdo NJ, Oliver AL   +3 more
doaj  

Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China

Frontiers in Genetics, 2023
Objective: To analyze the phenotypes, genotypes, and the relationship of phenotypes and genotypes for Chinese patients with Bardet-Biedl syndrome (BBS). Methods: The Chinese Wanfang and Weipu data, and PubMed were searched up to December 2022.
Xin-Yi Zou, Y. Dai, Zeng Ling-Hui
semanticscholar   +1 more source

Centrosomal JAK2 Tyrosine Kinase Regulates Primary Cilia Length, Cell Proliferation, and Cilia Orientation During Cell Migration

The FASEB Journal, Volume 40, Issue 4, 28 February 2026.
Growth hormone (GH) activates GHR at the primary cilium and stimulates centrosomal JAK2. JAK2 centrosomal localization requires both its SH2 domain and kinase activity. Cells expressing JAK2 variants deficient in centrosomal targeting show impaired control of cilia length, reduced proliferation, and cell migration compared with parental and JAK2 WT ...
Gaurab Karki, Lilly Boone, Taylor Klaiber, Trevor Lambert, Brooke Kimball, Bethany Burkhart, Mirella Youssef, Maria Diakonova   +7 more
wiley   +1 more source

Human genetics and clinical aspects of neurodevelopmental disorders [PDF]

, 2015
This chapter traverses contemporary understandings of the genetic architecture of human disease, and explores the clinical implications of the current state of knowledge.
Abecasis, Abu-Safieh, Ackerman, Aldred, Aldridge, Allain, Allchin, Andreasen, Andreasen, Anney, Bainbridge, Bakker, Bakker, Ball, Bamshad, Barbosa, Bates, Bateson, Batista, Baugher, Beales, Bearn, Beaudet, Berg, Bernal, Berndt, Bianchi, Biesecker, Bittles, Bittles, Blackwood, Bleuler, Bloom, Blount, Boyden, Boyden, Brandt, Brawley, Burga, Cartault, Casanueva, Chaturvedi, Cheng, Chua, Ciancarelli, Comfort, Comfort, Corleto, Coufal, Coulter, Craddock, Crepel, Davis, Derikx, Dickel, Dodd, Dolinoy, Down, Eichenbaum, Eichers, El-Hattab, Elia, Emond, Esvelt, Etheridge, Evans, Fan, Fins, Francke, Frank, Freund, Fu, Fu, Fullston, Gagnon, Gai, Gibson, Gigerenzer, Gigerenzer, Gigerenzer, Girirajan, Girirajan, Goddard, Green, Green, Greenspan, Greenspan, Greenspan, Grillo, Guedj, Guris, Gymrek, Hall, Hamamy, Hamshere, Hansen, Hedges, Hollander, Holmes, Hosoki, Huisman, Hulten, Hume, Hunter, Iascone, Iossifov, Iourov, Jamieson, Jongmans, Jongmans, Jonsson, Kajiwara, Kapusta, Katsanis, Katsanis, Katsanis, Keller, Kendler, Khoddami, Kitzman, Klei, Kohane, Kovaleva, Kraepelin, Kurek, Kurz-Milcke, Lai, Laurier, Leconte, Ledford, Lemmers, Li, Liao, Lichtenstein, Lindhurst, Lindhurst, Lowrance, Lupski, Lupski, Luria, Luria, Lyon, Lyon, Lyon, Lyon, Lyon, Lyon, Lyon, Macosko, Maffei, Maffei, Maffei, Makary, Malhotra, Margari, Mari, Maxmen, McClaren, McClaren, McDonald-McGinn, McGuire, McGuire, McIntyre, Memczak, Mercer, Meyer, Meyer, Miles, Misteli, Mitchell, Mitchell, Miura, Mole, Moreau, Moreno-De-Luca, Moreno-De-Luca, Mukherjee, Mykytyn, Nakane, Neale, Ng, Ng, Nielsen, Nielsen, Ning, Novarino, O'Rawe, O'Roak, O'Roak, Olby, Opitz, Orr, Papageorgiou, Papavassiliou, Parodi, Pauli, Pennacchio, Penrose, Perrat, Peters, Philip, Provine, Radick, Radick, Rand, Ratiu, Refsgaard, Reiss, Rickards, Rickards, Risgaard, Roach, Rosendahl, Sabin, Sacks, Sacks, Salem, Salzman, Sanders, Sanders, Sastry, Sato, Sbidian, Schaaf, Schneider, Scriver, Seguin, Shaikh, Shanske, Shi, Shirley, Slavin, Smaoui, Sokal, Sokal, Sol-Church, Solomon, Sporn, Stalmans, Steinbusch, Sterckx, Styrkarsdottir, Tajir, Tanaka, Tennessen, Terwilliger, Tome, Trevisson, Van Horn, van Swinderen, Velleman, Venancio, Vig, Visscher, Visscher, Vogelstein, Waddington, Waddington, Wang, Ward, Weinhouse, Weiss, Weiss, Weldon, Williams, Williams, Williams, Wilusz, Worthey, Wu, Wuyts, Xu, Yamada, Zimmermann, Zuk, Zumbo   +275 more
core   +1 more source

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Clinical Genetics, Volume 109, Issue 2, Page 305-315, February 2026.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas   +19 more
wiley   +1 more source

Group descent algorithms for nonconvex penalized linear and logistic regression models with grouped predictors

, 2013
Penalized regression is an attractive framework for variable selection problems. Often, variables possess a grouping structure, and the relevant selection problem is that of selecting groups, not individual variables. The group lasso has been proposed as
A. Chiang, A. Puig, B. Krishnapuram, C. Zhang, D. Bertsekas, D. Donoho, D. Hunter, H. Gao, H. Zou, J. Fan, J. Friedman, J. Huang, J.H. Friedman, Jian Huang, K. Lange, L. Meier, L. Wang, L. Wang, M. Yuan, N. Simon, P. Breheny, P. Ravikumar, P. Tseng, Patrick Breheny, R. Tibshirani, T. Scheetz, T. Wu, W. Fu, Y. She   +28 more
core   +1 more source