Results 161 to 170 of about 88,209 (269)

Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina:insights into X-linked Retinitis Pigmentosa and associated ciliopathies [PDF]

, 2008
Mutations in the cilia-centrosomal protein Retinitis Pigmentosa GTPase Regulator (RPGR) are a frequent cause of retinal degeneration. The RPGR gene undergoes complex alternative splicing and encodes multiple protein isoforms. To elucidate the function of
Akimoto, Anand Swaroop, Baala, Babak Behnam, Badano, Ben Margolis, Besharse, Bird, Boylan, Brancati, Breuer, Buraczynska, Cai, Chang, den Hollander, Deretic, Doxsey, Ferreira, Fishman, Fishman, Fleischman, Follit, Fujita, Fujita, Gieser, Han, Haycraft, Hemant Khanna, Hong, Hong, Hong, Hong, Hong, Hong, Hunter, Iannaccone, Jay, Kapranov, Khanna, Kim, Kirschner, Koenekoop, Linari, Liu, Liu, Low, Lu, Lu, Mavlyutov, Mears, Meindl, Melamud, Moore, Moritz, Neidhardt, Otto, Perrault, Renault, Roepman, Roepman, Rosenbaum, Rosenbaum, Sayer, Schwahn, Sharon, Shirley He, Shu, Shu, Singla, Sunil K. Parapuram, Toby W. Hurd, Tsvetkov, Valente, van Dorp, Vervoort, Vervoort, Wright, Yan, Young, Zhang, Zito   +80 more
core   +1 more source

Implications of Tobacco Use on Pathogen‐Driven Diseases: A Public Health and Policy Perspective

World Medical &Health Policy, EarlyView.
ABSTRACT The tobacco epidemic remains one of the most significant global public health challenges, responsible for over 8 million deaths annually, with a substantial portion occurring among non‐smokers exposed to second‐hand smoke. While cigarette smoking remains the most prevalent form of tobacco use worldwide, the rise of electronic nicotine delivery
Nadine Kabbani, James L. Olds
wiley   +1 more source

Aging‐Associated Vacuolation of Multi‐Ciliated Cells in the Distal Mouse Oviduct Reflects Unique Cell Identity and Luminal Microenvironment

Aging Cell, EarlyView.
Multi‐ciliated cells in the infundibulum and ampulla (INF/AMP) epithelium are vacuolated in aging. Unique cellular susceptibility of the INF/AMP epithelial population and aging‐associated decline in ovarian artery circulation, which supports the ovary and INF/AMP, contribute to this region‐specific vacuolation phenotype, as a consequence of a mildly ...
Keerthana Harwalkar, Nobuko Yamanaka, Alain S. Pacis, Selina Zhao, Katie Teng, Warwick Pitman, Mitaali Taskar, Vera Lynn, Alex Frances Thornton, Matthew J. Ford, Yojiro Yamanaka   +10 more
wiley   +1 more source

How exome sequencing improves the diagnostics and management of men with non‐syndromic infertility

Andrology, EarlyView.
Abstract Male infertility affects approximately 17% of all men and represents a complex disorder in which not only semen parameters such as sperm motility, morphology, and number of sperm are highly variable, but also testicular phenotypes range from normal spermatogenesis to complete absence of germ cells.
Birgit Stallmeyer, Ann‐Kristin Dicke, Frank Tüttelmann   +2 more
wiley   +1 more source

A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

Disease Models & Mechanisms, 2020
Primary ciliary dyskinesia (PCD) is a human condition of dysfunctional motile cilia characterized by recurrent lung infection, infertility, organ laterality defects and partially penetrant hydrocephalus. We recovered a mouse mutant from a forward genetic
Zakia Abdelhamed, Marshall Lukacs, Sandra Cindric, Heymut Omran, Rolf W. Stottmann   +4 more
doaj   +1 more source

Radial Spokes-A Snapshot of the Motility Regulation, Assembly, and Evolution of Cilia and Flagella [PDF]

, 2016
Propulsive forces generated by cilia and flagella are used in events that are critical for the thriving of diverse eukaryotic organisms in their environments. Despite distinctive strokes and regulations, the majority of them adopt the 9+2 axoneme that is
Liu, Yi, Yang, Pinfen, Zhu, Xiaoyan
core   +1 more source

Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome [PDF]

, 2019
Biliary atresia (BA) is the most common cause of end‐stage liver disease in children and the primary indication for pediatric liver transplantation, yet underlying etiologies remain unknown.
Alonso, Estella M, Berauer, John‐Paul, Bezerra, Jorge A, Bull, Laura N, Chopra, Pankaj, Cutler, David J, Finegold, Milton J, Gibbs, Richard A, Guthery, Stephen L, Harpavat, Sanjiv, Hegde, Madhuri R, Kamath, Binita M, Karpen, Saul J, Loomes, Kathleen M, Magee, John C, Mezina, Anya I, Molleston, Jean P, Moore, Barry, Murray, Karen F, Muzny, Donna M, Network, for the Childhood Liver Disease Research, Okou, David T, Perlmutter, David H, Rajagopalan, Ramakrishnan, Rosenthal, Philip, Russo, Pierre, Sabo, Aniko, Sherker, Averell H, Sokol, Ronald J, Spinner, Nancy B, Squires, Robert H, Thompson, Richard J, Wang, Kasper S, Yandell, Mark   +33 more
core   +2 more sources

Innovative all‐in‐one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10‐month experience

Andrology, EarlyView.
Abstract Background Current guidelines indicate that patients with extreme oligozoospermia or azoospermia should be tested for chromosomal imbalances, azoospermia factor (AZF) deletions and/or CFTR variants. For other sperm abnormalities, no genetic diagnostics are recommended.
Manon S. Oud, Nicole de Leeuw, Dominique F. C. M. Smeets, Liliana Ramos, Godfried W. van der Heijden, Raoul G. J. Timmermans, Maartje van de Vorst, Tom Hofste, Marlies J. E. Kempers, Marijn F. Stokman, Kathleen W. M. D'Hauwers, Brigitte H. W. Faas, Dineke Westra   +12 more
wiley   +1 more source

EP300‐interacting inhibitor of differentiation 3 is required for spermatogenesis in mice

Andrology, EarlyView.
Abstract Background Mammalian spermatogenesis is a highly complex process of cell proliferation, meiosis, and differentiation. A series of genes are expressed in an orderly and precise manner to ensure spermatogenesis, with chromatin undergoing intricate changes throughout.
Ping Zhang, Longsheng Zhang, Li Yu, Xinli Zhou, Xu Chen, Yuchuan Zhou, Ningling Wang, Hui Zhu   +7 more
wiley   +1 more source

Electron cryotomography of intact motile cilia defines the basal body to axoneme transition

Journal of Cell Biology, 2019
Greenan et al. use electron cryotomography on intact motile cilia to elucidate how basal bodies template the formation of motile axonemes.
G. Greenan, R. Vale, D. Agard
semanticscholar   +1 more source