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Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair.

作者信息

Maruthappu Thiviyani, McGinty Lisa A, Blaydon Diana C, Fell Benjamin, Määttä Arto, Duit Rebecca, Hawkins Tim, Braun Kristin M, Simpson Michael A, O'Toole Edel A, Kelsell David P

机构信息

Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

Department of Biosciences, Durham University, Durham, UK.

出版信息

J Invest Dermatol. 2018 Apr;138(4):984-987. doi: 10.1016/j.jid.2017.10.031. Epub 2017 Nov 11.

DOI:10.1016/j.jid.2017.10.031
PMID:29138053
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5869049/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a42e/5869049/3ee0932257e8/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a42e/5869049/54bb195dd036/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a42e/5869049/3ee0932257e8/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a42e/5869049/54bb195dd036/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a42e/5869049/3ee0932257e8/gr2.jpg

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本文引用的文献

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Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis.一个犬类三联体家族的全基因组测序揭示了一个与遗传性脚垫角化过度相关的FAM83G变体。
G3 (Bethesda). 2016 Jan 8;6(3):521-7. doi: 10.1534/g3.115.025643.
2
Expression of human skin-specific genes defined by transcriptomics and antibody-based profiling.基于转录组学和抗体谱分析鉴定的人皮肤特异性基因的表达。
J Histochem Cytochem. 2015 Feb;63(2):129-41. doi: 10.1369/0022155414562646. Epub 2014 Nov 19.
3
Defective channels lead to an impaired skin barrier.
SUV39H2 的表观遗传沉默控制表皮干细胞和祖细胞的命运转换。
J Cell Biol. 2021 Apr 5;220(4). doi: 10.1083/jcb.201908178.
4
Functions and regulation of the serine/threonine protein kinase CK1 family: moving beyond promiscuity.丝氨酸/苏氨酸蛋白激酶 CK1 家族的功能和调节：超越混杂性。
Biochem J. 2020 Dec 11;477(23):4603-4621. doi: 10.1042/BCJ20200506.
5
FAM83G Is a Novel Inducer of Apoptosis.FAM83G 是一种新型凋亡诱导因子。
Molecules. 2020 Jun 18;25(12):2810. doi: 10.3390/molecules25122810.
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A Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis.罗威纳犬脚垫过度角化症的移码变异。
Genes (Basel). 2020 Apr 24;11(4):469. doi: 10.3390/genes11040469.
7
Diagnosis and Management of Inherited Palmoplantar Keratodermas.遗传性掌跖角化症的诊断与治疗。
Acta Derm Venereol. 2020 Mar 25;100(7):adv00094. doi: 10.2340/00015555-3430.
8
Pathogenic palmoplantar keratoderma mutations inhibit the PAWS1:CK1α association and attenuate Wnt signalling.致病性掌跖角化病突变抑制PAWS1与CK1α的结合并减弱Wnt信号传导。
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J Pathol. 2012 Jan;226(2):158-71. doi: 10.1002/path.3027. Epub 2011 Nov 14.