Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes

Autor: Yongchao Guo, Jianhui Jiang, Zhongyao Xu

Publikováno v: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)

Abstract Background Population-specific variation database of inborn errors of metabolism (IEMs) is essential for precise genetic diagnosis and disease prevention. Here we presented a systematic review of clinically relevant variants of 13 IEMs genes

Externí odkaz: https://doaj.org/article/9568f7f803214aa1a0078cbf42469eb0

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Amelogenesis Imperfecta; Genes, Proteins, and Pathways

Autor: Claire E. L. Smith, James A. Poulter, Agne Antanaviciute, Jennifer Kirkham, Steven J. Brookes, Chris F. Inglehearn, Alan J. Mighell

Publikováno v: Frontiers in Physiology, Vol 8 (2017)

Amelogenesis imperfecta (AI) is the name given to a heterogeneous group of conditions characterized by inherited developmental enamel defects. AI enamel is abnormally thin, soft, fragile, pitted and/or badly discolored, with poor function and aesthet

Externí odkaz: https://doaj.org/article/3507c36431f64b82b87af660f68bfb9a

Improving the resolution of canine genome-wide association studies using genotype imputation: A study of two breeds

Autor: Sally L. Ricketts, Steven G. Friedenberg, Cord Drögemüller, Claire M. Wade, Leonardo Murgiano, Jeffrey J. Schoenebeck, Christophe Hitte, Sheila M. Schmutz, C. A. Jenkins, Doreen Becker, L. De Risio, Anita M. Oberbauer, Tosso Leeb, Brian W. Davis, Kiterie M. E. Faller, Eva Furrow, Catherine Andre, Frank G. van Steenbeek, Ellen Schofield, Urs Giger, Kari J Ekenstedt, Cathryn S. Mellersh, James R. Mickelson, Gustavo Aguirre, Hannes Lohi, Marjo K. Hytönen, Danika Bannasch, Oliver P. Forman, C. S. Mellersh, Kim M. Summers, Vidhya Jagannathan

Publikováno v: Animal genetics
Animal genetics, vol 52, iss 5
Jenkins, C A, Aguirre, G, André, C, Bannasch, D, Becker, D, Davis, B, Drögemüller, C, Ekenstedt, K, Faller, K, Forman, O, Friedenberg, S, Furrow, E, Giger, U, Hitte, C, Hytönen, M, Jagannathan, V, Leeb, T, Lohi, H, Mellersh, C S, Mickelson, J R, Murgiano, L, Oberbauer, A, Schmutz, S, Schoenebeck, J J, Summers, K M, Van Steenbeek, F G, Wade, C, Schofield, E C, Mellersh, C S, De Risio, L & Ricketts, S L 2021, ' Improving the resolution of canine genome-wide association studies using genotype imputation: A study of two breeds ', Animal Genetics . https://doi.org/10.1111/age.13117
Jenkins, Christopher A.; Dog Biomedical Variant Database, Consortium; Schofield, Ellen C.; Mellersh, Cathryn S.; De Risio, Luisa; Ricketts, Sally L. (2021). Improving the resolution of canine genome-wide association studies using genotype imputation: A study of two breeds. Animal genetics, 52(5), pp. 703-713. Wiley 10.1111/age.13117
Animal Genetics, 52(5), 703. Wiley-Blackwell

Funder: Italian Spinone Club of Great Britain
Funder: Kennel Club Charitable Trust
Genotype imputation using a reference panel that combines high-density array data and publicly available whole genome sequence consortium variant data is pot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2deb3dcb2333357cfe21125f9e55d038

Mapping OMIM Disease–Related Variations on Protein Domains Reveals an Association Among Variation Type, Pfam Models, and Disease Classes

Autor: Pier Luigi Martelli, Rita Casadio, Castrense Savojardo, Giulia Babbi

Publikováno v: Frontiers in Molecular Biosciences
Frontiers in Molecular Biosciences, Vol 8 (2021)

Human genome resequencing projects provide an unprecedented amount of data about single-nucleotide variations occurring in protein-coding regions and often leading to observable changes in the covalent structure of gene products. For many of these va

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d8867225eae2f7cc2f0b50311cae724
https://doi.org/10.3389/fmolb.2021.617016