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Updated: Jun 20, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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多重血系家族亮点CLASP1作为一个候选基因Lissencephaly

Rawan Alsafh1, Amal Alhashem1, Aly Elsyed1

  • 1From the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia.

Neurology. Genetics
|July 23, 2024
PubMed
概括

CLASP1基因中的双变异与初级小头症,严重的神经发育迟缓和有关. 这突显了CLASP1在大脑发育和微管稳定中的关键作用.

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相关概念视频

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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