Identification of microcephalin, a protein implicated in determining the size of the human brain - Wikidata - wikimedia - TriplyDB

Identification of microcephalin, a protein implicated in determining the size of the human brain

Identification of microcephalin, a protein implicated in determining the size of the human brain

http://www.wikidata.org/entity/Q22337169

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Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution De novo mutations in moderate or severe intellectual disability The microcephalin ancestral allele in a Neanderthal individual Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society Microcephalin Is a DNA Damage Response Protein Involved in Regulation of CHK1 and BRCA1 Sex-dependent association of common variants of microcephaly genes with brain structure Evidence that the adaptive allele of the brain size gene microcephalin introgressed into Homo sapiens from an archaic Homo lineage WDR62 is associated with the spindle pole and is mutated in human microcephaly Human ASPM participates in spindle organisation, spindle orientation and cytokinesis.CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly MCPH1/BRIT1 cooperates with E2F1 in the activation of checkpoint, DNA repair and apoptosis The overexpression of MCPH1 inhibits cell growth through regulating cell cycle-related proteins and activating cytochrome c-caspase 3 signaling in cervical cancer Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size Brain shape in human microcephalics and Homo floresiensis BRCA1: cell cycle checkpoint, genetic instability, DNA damage response and cancer evolution Current Evidence for Developmental, Structural, and Functional Brain Defects following Prenatal Radiation Exposure Cerebral cortex expansion and folding: what have we learned?Proliferation control in neural stem and progenitor cells Genetic changes shaping the human brain Spindle orientation in mammalian cerebral cortical development Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function A Pocket on the Surface of the N-Terminal BRCT Domain of Mcph1 Is Required to Prevent Abnormal Chromosome Condensation Dual recognition of phosphoserine and phosphotyrosine in histone variant H2A.X by DNA damage response protein MCPH1 The mosaic that is our genome CDK5RAP2 regulates centriole engagement and cohesion in mice MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1-Cdc25 pathway VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling Growth and folding of the mammalian cerebral cortex: from molecules to malformations Colloquium paper: phylogenomic evidence of adaptive evolution in the ancestry of humans Phylogeny and adaptive evolution of the brain-development gene microcephalin (MCPH1) in cetaceans Review. Genetic exchange and the origin of adaptations: prokaryotes to primates Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings Neurodevelopmental protein Musashi 1 interacts with the Zika genome and promotes viral replication.DNA IR-Double Strand Breaks (DSBs) and cellular response via ATM Host-Virus Interaction of ZIKA Virus in Modulating Disease Pathogenesis.Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1.The derived allele of ASPM is associated with lexical tone perception.Microcephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression.Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.

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Identification of microcephalin, a protein implicated in determining the size of the human brain

http://www.wikidata.org/entity/Q22337169

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2002 nî lūn-bûn

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2002 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2002年の論文

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Identification of microcephali ...... ng the size of the human brain

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Identification of microcephali ...... ng the size of the human brain

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Identification of microcephali ...... ng the size of the human brain

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American Journal of Human Genetics

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Identification of microcephali ...... ng the size of the human brain

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C Geoffrey Woods

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Daniel J Hampshire

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Emma Roberts

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Gulshan Karbani

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Helen Eastwood

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Hussain Jafri

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Jimi Adu

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Robert F Mueller

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Sandra M Bell

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Yasmin Rashid

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P2860

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group

Assignment of ANGPT4, ANGPT1, and ANGPT2 encoding angiopoietins 4, 1 and 2 to human chromosome bands 20p13, 8q22.3-->q23 and 8p23.1, respectively, by in situ hybridization and radiation hybrid mapping

Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation

A PCR procedure to determine the sequence of large polypeptides by rapid walking through a cDNA library

The human genus.

The BRCA1 C-terminal domain: structure and function.

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10.1086/341283

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Alexander Markham

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