نتائج البحث - "enhanceropathy"

المساهمون: Human Genetics, ANS - Complex Trait Genetics, ARD - Amsterdam Reproduction and Development, Ophthalmology, Ghent University, European Commission, Foundation Fighting Blindness, Research Foundation - Flanders

المصدر: American journal of human genetics, 109(11), 2029-2048. Cell Press
AMERICAN JOURNAL OF HUMAN GENETICS
van de Sompele, S, Small, K W, Cicekdal, M B, Soriano, V C L P, D'haene, E, Shaya, F S, Agemy, S, van der Snickt, T, Rey, A D, Rosseel, T, van Heetvelde, M, Vergult, S, Balikova, I, Bergen, A A, Boon, C J F, de Zaeytijd, J, Inglehearn, C F, Kousal, B, Leroy, B P, Rivolta, C, Vaclavik, V, van den Ende, J, van Schooneveld, M J, Gómez-Skarmeta, J L, Tena, J J, Martinez-Morales, J R, Liskova, P, Vleminckx, K & de Baere, E 2022, ' Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy ', American journal of human genetics, vol. 109, no. 11, pp. 2029-2048 . https://doi.org/10.1016/j.ajhg.2022.09.013
The American journal of human genetics
American Journal of Human Genetics

مصطلحات موضوعية: Adult, EXPRESSION, DOMAINS, PHOTORECEPTOR, North Carolina macular dystrophy, NCMD, non-coding single-nucleotide variants, SNVs, PRDM13, Retina, STRUCTURAL VARIANTS, Xenopus laevis, Genetics, Medicine and Health Sciences, Animals, Humans, Ccis-regulatory elements, CREswhole-genome sequencing, North Carolina macular dystrophy, Genetics (clinical), Corneal Dystrophies, Hereditary, NCMD, enhanceropathy, Biology and Life Sciences, TRANSGENESIS, multi-omics, GENE, DUPLICATION, UMI-4, Pedigree, FAMILY, GENOME, cis-regulatory elements, CREs, whole-genome sequencing, cis-regulatory elements, UMI-4C, CREs, non-coding single-nucleotide variants, SNVs, Human medicine, human retina, Tomography, Optical Coherence, IRX1

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b620930ee8f558f7163d5e8ef6c7214
https://pure.amc.nl/en/publications/multiomics-approach-dissects-cisregulatory-mechanisms-underlying-north-carolina-macular-dystrophy-a-retinal-enhanceropathy(a21b31c2-45b2-4ac7-8f36-b1ba5837f3eb).html

5

Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder

المصدر: Long, H K, Osterwalder, M, Welsh, I C, Hansen, K, Davies, J O J, Liu, Y E, Koska, M, Adams, A T, Aho, R, Arora, N, Ikeda, K, Williams, R M, Sauka-Spengler, T, Porteus, M H, Mohun, T, Dickel, D E, Swigut, T, Hughes, J R, Higgs, D R, Visel, A, Selleri, L & Wysocka, J 2020, ' Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder ', Cell Stem Cell, vol. 27, no. 5, pp. 765-783.e14 . https://doi.org/10.1016/j.stem.2020.09.001
Cell Stem Cell
Cell stem cell, vol 27, iss 5

مصطلحات موضوعية: Pediatric Research Initiative, Mutation/genetics, Cellular differentiation, gene dosage, non-coding mutation, SOX9, Biology, Regulatory Sequences, Nucleic Acid, craniofacial, Medical and Health Sciences, Gene dosage, Article, 03 medical and health sciences, 0302 clinical medicine, Stem Cell Research - Nonembryonic - Human, Genetics, Humans, Stem Cell Research - Embryonic - Human, Dental/Oral and Craniofacial Disease, Craniofacial, Enhancer, Gene, 030304 developmental biology, Pediatric, 0303 health sciences, Pierre Robin sequence, Nucleic Acid, Pierre Robin Syndrome, enhanceropathy, Neural crest, SOX9 Transcription Factor, Cell Differentiation, Cell Biology, Biological Sciences, Stem Cell Research, Phenotype, Cell biology, SOX9 Transcription Factor/genetics, long-range regulation, Neural Crest, Mutation, Congenital Structural Anomalies, Molecular Medicine, enhancer, transcription, Regulatory Sequences, 030217 neurology & neurosurgery, Developmental Biology