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7p21.3 Together With a 12p13.32 Deletion in a Patient With Microcephaly-Does 12p13.32 Locus Possibly Comprises a Candidate Gene Region for Microcephaly?

作者信息

Rincic Martina, Rados Milan, Kopic Janja, Krsnik Zeljka, Liehr Thomas

机构信息

Croatian Institute for Brain Research, School of Medicine, University of Zagreb, Zagreb, Croatia.

Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.

出版信息

Front Mol Neurosci. 2021 Feb 4;14:613091. doi: 10.3389/fnmol.2021.613091. eCollection 2021.

DOI:10.3389/fnmol.2021.613091
PMID:33613193
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7890232/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0b9/7890232/8047e8ff515f/fnmol-14-613091-g0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0b9/7890232/e1833b95f243/fnmol-14-613091-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0b9/7890232/cc2542288b86/fnmol-14-613091-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0b9/7890232/ea606ec08785/fnmol-14-613091-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0b9/7890232/8047e8ff515f/fnmol-14-613091-g0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0b9/7890232/e1833b95f243/fnmol-14-613091-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0b9/7890232/cc2542288b86/fnmol-14-613091-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0b9/7890232/ea606ec08785/fnmol-14-613091-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0b9/7890232/8047e8ff515f/fnmol-14-613091-g0004.jpg

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7p21.3 Together With a 12p13.32 Deletion in a Patient With Microcephaly-Does 12p13.32 Locus Possibly Comprises a Candidate Gene Region for Microcephaly?小头畸形患者中7p21.3与12p13.32缺失——12p13.32位点可能包含小头畸形的候选基因区域吗？
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Exp Ther Med. 2023 Jan 16;25(2):100. doi: 10.3892/etm.2023.11799. eCollection 2023 Feb.
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本文引用的文献

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Cell Rep. 2020 Jun 9;31(10):107744. doi: 10.1016/j.celrep.2020.107744.
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Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases.对基因剂量和基因表达的敏感性会影响到在神经精神疾病中观察到的具有拷贝数变异的基因。
BMC Med Genomics. 2020 Mar 29;13(1):55. doi: 10.1186/s12920-020-0699-9.
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Mouse Genome Database (MGD) 2019.
鼠标基因组数据库 (MGD) 2019.
Nucleic Acids Res. 2019 Jan 8;47(D1):D801-D806. doi: 10.1093/nar/gky1056.
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Loss of Protein Arginine Methyltransferase 8 Alters Synapse Composition and Function, Resulting in Behavioral Defects.蛋白质精氨酸甲基转移酶8的缺失会改变突触组成和功能，导致行为缺陷。
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