المؤلفون: Giorgio Placidi, Elena D’Agostino, Paolo Enrico Maltese, Maria Cristina Savastano, Gloria Gambini, Stanislao Rizzo, Gabriele Bonetti, Matteo Bertelli, Pietro Chiurazzi, Benedetto Falsini

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: ARL2BP, Syndromic rod-cone dystrophy, Renal agenesis, Cryptorchidism, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/1af6536faa4e4fd2b67af9635c62c787

المؤلفون: Moye, Abigail R., Bedoni, Nicola, Cunningham, Jessica G., Sanzhaeva, Urikhan, Tucker, Eric S., Mathers, Peter, Peter, Virginie G., Quinodoz, Mathieu, Paris, Liliana P., Coutinho-Santos, Luísa, Camacho, Pedro, Purcell, Madeleine G., Winkelmann, Abbie C., Foster, James A., Pugacheva, Elena N., Rivolta, Carlo, Ramamurthy, Visvanathan

مصطلحات موضوعية: Genetics, ARL2BP, Infertility

Relation: https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1008315; Moye AR, Bedoni N, Cunningham JG, Sanzhaeva U, Tucker ES, Camacho P, et al. Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice. PLoS Genet. 2019;15(8):e1008315.; http://hdl.handle.net/10400.21/10524

الاتاحة: http://hdl.handle.net/10400.21/10524
https://doi.org/10.1371/journal.pgen.1008315

المؤلفون: Nicola Bedoni, Liliana P. Paris, Madeleine G. Purcell, James A. Foster, Virginie G. Peter, Abbie C. Winkelmann, Eric S. Tucker, Urikhan Sanzhaeva, Carlo Rivolta, Pedro Camacho, Mathieu Quinodoz, Jessica G. Cunningham, Abigail R. Moye, Luisa Coutinho-Santos, Visvanathan Ramamurthy, Peter H. Mathers, Elena N. Pugacheva

المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
PLoS Genetics
PLoS Genetics, Vol 15, Iss 8, p e1008315 (2019)

مصطلحات موضوعية: Male, Cancer Research, Physiology, ARL2BP, QH426-470, Microtubules, Ciliopathies, Mice, 0302 clinical medicine, Photophobia, Animal Cells, Reproductive Physiology, Medicine and Health Sciences, Cell Cycle and Cell Division, Testes, Cytoskeleton, Genetics (clinical), Mice, Knockout, 0303 health sciences, Chromosome Biology, Cilium, Syndrome, Animal Models, Middle Aged, Phenotype, Pedigree, Cell biology, Meiosis, Experimental Organism Systems, Cell Processes, Sperm Motility, Female, Cellular Types, Cellular Structures and Organelles, Anatomy, Genital Anatomy, Research Article, Adult, Mouse Models, Biology, Research and Analysis Methods, 03 medical and health sciences, Model Organisms, Microtubule, Acrosomes, medicine, Genetics, Animals, Humans, Cilia, Spermatogenesis, Molecular Biology, Infertility, Male, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Sperm flagellum, Reproductive System, Membrane Transport Proteins, Biology and Life Sciences, Cell Biology, medicine.disease, Sperm, SPEF2, Disease Models, Animal, Ciliopathy, Situs inversus, Germ Cells, Sperm Tail, Infertility, Animal Studies, Sperm Head, Carrier Proteins, 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::369abf430b957d8740aaf81c314a535c

المؤلفون: Moye, Abigail Ruth

المصدر: Graduate Theses, Dissertations, and Problem Reports

مصطلحات موضوعية: ARL2BP, ARL2, ARL3, photoreceptor, cilia, microtubules, Retinal Degeneration, Biological Phenomena, Cell Phenomena, and Immunity, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Modeling, Eye Diseases, Medical Cell Biology, Medical Molecular Biology

وصف الملف: application/pdf

Relation: https://researchrepository.wvu.edu/etd/3712; https://researchrepository.wvu.edu/cgi/viewcontent.cgi?article=4738&context=etd

الاتاحة: https://researchrepository.wvu.edu/etd/3712
https://researchrepository.wvu.edu/cgi/viewcontent.cgi?article=4738&context=etd

المؤلفون: Moye, Abigail Ruth

مصطلحات الفهرس: ARL2BP, ARL2, ARL3, photoreceptor, cilia, microtubules, Retinal Degeneration, Biological Phenomena, Cell Phenomena, and Immunity, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Modeling, Eye Diseases, Medical Cell Biology, Medical Molecular Biology

URL: https://doi.org/10.33915/etd.3712