Cargando…

New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family

PURPOSE: To report that variants in the gene for a large lamina basal component protein, COL6A6 (collagen type VI alpha 6 chain, Col6α6), linked to chromosome 3p22.1 causes retinitis pigmentosa (RP) in patients with autosomal dominant transmission (adRP). METHODS: A positional-cloning approach, whol...

Descripción completa

Detalles Bibliográficos
Autores principales:	Vaclavik, Veronika, Tiab, Leila, Sun, Young Joo, Mahajan, Vinit B., Moulin, Alexandre, Allaman-Pillet, Nathalie, Munier, Francis L., Schorderet, Daniel F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8963667/ https://www.ncbi.nlm.nih.gov/pubmed/35333290 http://dx.doi.org/10.1167/iovs.63.3.23

Ejemplares similares

Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene
por: Vaclavik, Veronika, et al.
Publicado: (2010)

A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa
por: Tiab, Leila, et al.
Publicado: (2013)

Piperlongumine promotes death of retinoblastoma cancer cells
por: Allaman-Pillet, Nathalie, et al.
Publicado: (2021)

Gene therapy in animal models of autosomal dominant retinitis pigmentosa
por: Rossmiller, Brian, et al.
Publicado: (2012)

SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
por: Liu, Yuan, et al.
Publicado: (2015)

Gene Therapy for Rhodopsin-associated Autosomal Dominant Retinitis Pigmentosa
por: Massengill, Michael T., et al.
Publicado: (2021)

SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
por: Zhang, Tao, et al.
Publicado: (2021)

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
por: Arno, Gavin, et al.
Publicado: (2016)

Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa
por: Oh, Jin Kyun, et al.
Publicado: (2019)

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa
por: Bowne, Sara J., et al.
Publicado: (2008)

Bigh3 silencing increases retinoblastoma tumor growth in the murine SV40-TAg-Rb model
por: Allaman-Pillet, Nathalie, et al.
Publicado: (2017)

Identifying mutations in Tunisian families with retinal dystrophy
por: Habibi, Imen, et al.
Publicado: (2016)

Corrigendum: Identifying mutations in Tunisian families with retinal dystrophy
por: Habibi, Imen, et al.
Publicado: (2017)

Genotyping microarray: Mutation screening in Spanish families with autosomal dominant retinitis pigmentosa
por: Blanco-Kelly, Fiona, et al.
Publicado: (2012)

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa
por: Benaglio, Paola, et al.
Publicado: (2014)

Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa
por: Zhong, Zilin, et al.
Publicado: (2016)

Sectoral activation of glia in an inducible mouse model of autosomal dominant retinitis pigmentosa
por: Massengill, Michael T., et al.
Publicado: (2020)

Myriocin Effect on Tvrm4 Retina, an Autosomal Dominant Pattern of Retinitis Pigmentosa
por: Piano, Ilaria, et al.
Publicado: (2020)

Pharmacological strategies for treating misfolded rhodopsin-associated autosomal dominant retinitis pigmentosa
por: Xi, Yibo, et al.
Publicado: (2021)

Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa
por: Takahashi, Vitor K. L., et al.
Publicado: (2019)

Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa
por: Millington-Ward, Sophia, et al.
Publicado: (2011)

Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa
por: Bowne, Sara J., et al.
Publicado: (2013)

Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations
por: Jacobson, Samuel G., et al.
Publicado: (2016)

Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients
por: Xu, Fei, et al.
Publicado: (2012)

Corrigendum: Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa
por: Zhong, Zilin, et al.
Publicado: (2017)

Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa
por: Muthiah, Manickam Nick, et al.
Publicado: (2022)

Lymphocyte infiltration in CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy
por: Mahajan, Vinit B, et al.
Publicado: (2013)

Hmx1 regulates urfh1 expression in the craniofacial region in zebrafish
por: El Fersioui, Younes, et al.
Publicado: (2021)

Premature Vertebral Mineralization in hmx1-Mutant Zebrafish
por: El Fersioui, Younes, et al.
Publicado: (2022)

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)
por: Habibi, Imen, et al.
Publicado: (2019)

Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa
por: Yu, Xinping, et al.
Publicado: (2016)

Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa
por: Diakatou, Michalitsa, et al.
Publicado: (2019)

Erythropoietin Slows Photoreceptor Cell Death in a Mouse Model of Autosomal Dominant Retinitis Pigmentosa
por: Rex, Tonia S., et al.
Publicado: (2016)

Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa
por: Xiao, Ting, et al.
Publicado: (2021)

Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene
por: Ali-Nasser, Tahleel, et al.
Publicado: (2022)

Mutation-independent gene knock-in therapy targeting 5′UTR for autosomal dominant retinitis pigmentosa
por: Hoang, Duc Anh, et al.
Publicado: (2023)

Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population
por: Zhang, Lujia, et al.
Publicado: (2021)

Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy
por: Rowell, Hannah A, et al.
Publicado: (2012)

COL4A6 is dispensable for autosomal recessive Alport syndrome
por: Murata, Tomohiro, et al.
Publicado: (2016)

Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa
por: Ballios, Brian G., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_c2qs9ue5ikm50qinnq8tp1cucp