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العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37580905; info:eu-repo/semantics/altIdentifier/eissn/1525-0024; https://serval.unil.ch/notice/serval:BIB_219699766F24Test; urn:issn:1525-0016

الإتاحة: https://doi.org/10.1016/j.ymthe.2023.08.011Test
https://serval.unil.ch/notice/serval:BIB_219699766F24Test

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النص الكامل

7

دورية أكاديمية

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa

المؤلفون: Van Schil, Kristof, Klevering, B. Jeroen, Leroy, Bart P., Pott, Jan Willem R., Bandah-Rozenfeld, Dikla, Zonneveld-Vrieling, Marijke N., Sharon, Dror, den Hollander, Anneke I., Cremers, Frans P. M., De Baere, Elfride, Collin, Rob W. J., van den Born, L. Ingeborgh

المصدر: Van Schil , K , Klevering , B J , Leroy , B P , Pott , J W R , Bandah-Rozenfeld , D , Zonneveld-Vrieling , M N , Sharon , D , den Hollander , A I , Cremers , F P M , De Baere , E , Collin , R W J & van den Born , L I 2015 , ' A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa ' , Investigative ophthalmology & visual science , vol. 56 , no. 12 ....

مصطلحات موضوعية: FAM161A, retinitis pigmentosa, founder mutation, bull's eye-like maculopathy, TIME QUANTITATIVE PCR, REVEALS, CILIOPATHIES, DISRUPTION, COMPONENT, COMPLEX

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/69630482-bbfe-4b37-8dac-c741eb7d62beTest

الإتاحة: https://doi.org/10.1167/iovs.15-17920Test
https://hdl.handle.net/11370/69630482-bbfe-4b37-8dac-c741eb7d62beTest
https://research.rug.nl/en/publications/69630482-bbfe-4b37-8dac-c741eb7d62beTest
https://pure.rug.nl/ws/files/58261865/i1552_5783_56_12_7418.pdfTest

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8

Structural bioinformatics predicts that the Retinitis Pigmentosa-28 protein of unknown function FAM161A is a homologue of the microtubule nucleation factor Tpx2

المؤلفون: Tim P. Levine

المصدر: F1000Research

مصطلحات موضوعية: 0301 basic medicine, Microtubule Associated Protein, Centriole, Molecular model, Microtubule-associated protein, Xenopus, Cell Cycle Proteins, Computational biology, 030105 genetics & heredity, Biology, Microtubules, General Biochemistry, Genetics and Molecular Biology, Homology (biology), 03 medical and health sciences, Structural bioinformatics, Nucleation Factor, Humans, General Pharmacology, Toxicology and Pharmaceutics, FAM161A, Eye Proteins, Microtubule nucleation, Centrosome, General Immunology and Microbiology, Tpx2, Computational Biology, General Medicine, Articles, Primary Cilium, biology.organism_classification, Structural Bioinformatics, 030104 developmental biology, Microtubule-Associated Proteins, Retinitis Pigmentosa, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89dd49bc70f149e8a8efc05e36357d8aTest
http://europepmc.org/articles/PMC7551519Test

9

كتاب

Whole exome sequencing identifies recessive germline mutations in FAM160A1 in familial NK/T cell lymphoma

المؤلفون: Chan, J.Y, Ng, A.Y.J, Cheng, C.L, Nairismägi, M.-L, Venkatesh, B, Cheah, D.M.Z, Li, S.-T, Chan, S.H, Ngeow, J, Laurensia, Y, Lim, J.Q, Pang, J.W.L, Nagarajan, S, Song, T, Chia, B, Tan, J, Huang, D, Goh, Y.T, Poon, E, Somasundaram, N, Tao, M, Quek, R.H.H, Farid, M, Khor, C.C, Bei, J.-X, Tan, S.Y, Lim, S.T, Ong, C.K, Tang, T

المساهمون: DEAN'S OFFICE (DUKE-NUS MEDICAL SCHOOL), DEPT OF PAEDIATRICS, DUKE-NUS MEDICAL SCHOOL, DEPT OF BIOCHEMISTRY, PATHOLOGY

المصدر: Unpaywall 20200831

مصطلحات موضوعية: eye protein, FAM161A protein, human, adult, biopsy, case report, gene expression, gene expression profiling, genetics, germline mutation, immunohistochemistry, male, metabolism, NK T cell lymphoma, pedigree, sibling, whole exome sequencing, Eye Proteins, Germ-Line Mutation, Humans, Lymphoma, Extranodal NK-T-Cell, Siblings

العلاقة: Chan, J.Y, Ng, A.Y.J, Cheng, C.L, Nairismägi, M.-L, Venkatesh, B, Cheah, D.M.Z, Li, S.-T, Chan, S.H, Ngeow, J, Laurensia, Y, Lim, J.Q, Pang, J.W.L, Nagarajan, S, Song, T, Chia, B, Tan, J, Huang, D, Goh, Y.T, Poon, E, Somasundaram, N, Tao, M, Quek, R.H.H, Farid, M, Khor, C.C, Bei, J.-X, Tan, S.Y, Lim, S.T, Ong, C.K, Tang, T (2018). Whole exome sequencing identifies recessive germline mutations in FAM160A1 in familial NK/T cell lymphoma. Blood Cancer Journal 8 (11) : 111. ScholarBank@NUS Repository. https://doi.org/10.1038/s41408-018-0149-5Test; https://scholarbank.nus.edu.sg/handle/10635/174352Test

الإتاحة: https://doi.org/10.1038/s41408-018-0149-5Test
https://scholarbank.nus.edu.sg/handle/10635/174352Test

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النص الكامل

10

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa

المؤلفون: Kristof Van Schil, Anneke I. den Hollander, Rob W.J. Collin, B. Jeroen Klevering, Dikla Bandah-Rozenfeld, Dror Sharon, Marijke N. Zonneveld-Vrieling, Frans P.M. Cremers, Jan Willem R. Pott, L. Ingeborgh van den Born, Elfride De Baere, Bart P. Leroy

المصدر: Investigative Ophthalmology and Visual Science, 56, 7418-26
Investigative Ophthalmology and Visual Science, 56, 12, pp. 7418-26
Investigative ophthalmology & visual science, 56(12), 7418-7426. ASSOC RESEARCH VISION OPHTHALMOLOGY INC

مصطلحات موضوعية: Adult, Male, DISRUPTION, genetic structures, Nonsense mutation, DNA Mutational Analysis, Sensory disorders Radboud Institute for Health Sciences [Radboudumc 12], Genes, Recessive, Biology, symbols.namesake, Belgium, retinitis pigmentosa, Retinitis pigmentosa, REVEALS, medicine, Humans, FAM161A, CILIOPATHIES, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Eye Proteins, Alleles, Netherlands, bull's eye-like maculopathy, Genetics, Sanger sequencing, COMPLEX, Haplotype, TIME QUANTITATIVE PCR, DNA, Middle Aged, medicine.disease, Disease gene identification, eye diseases, COMPONENT, Pedigree, Haplotypes, Codon, Nonsense, Mutation (genetic algorithm), Mutation, symbols, founder mutation, Female, Age of onset, Founder effect

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee2dc7492f2668b027b46582db11b9c8Test
https://hdl.handle.net/11370/69630482-bbfe-4b37-8dac-c741eb7d62beTest

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