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Microcephaly, Primary Autosomal Recessive, 6

Known as: MCPH6, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE 
 
National Institutes of Health

Related topics

Related topics

3 relations
Autosomal recessive inheritanceIntellectual disability, moderate

Broader (1)

Microcephaly

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Conserved TCP domain of Sas-4/CPAP is essential for pericentriolar material tethering during centrosome biogenesis.
Pericentriolar material (PCM) recruitment to centrioles forms a key step in centrosome biogenesis. Deregulation of this process… Expand
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Highly Cited
2014
Highly Cited
2014
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation
Centrioles are microtubule-based, barrel-shaped structures that initiate the assembly of centrosomes and cilia. How centriole… Expand
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Highly Cited
2013
Highly Cited
2013
Crystal structures of the CPAP/STIL complex reveal its role in centriole assembly and human microcephaly
Centrioles organise centrosomes and template cilia and flagella. Several centriole and centrosome proteins have been linked to… Expand
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2012
2012
Disruption of Mouse Cenpj, a Regulator of Centriole Biogenesis, Phenocopies Seckel Syndrome
Disruption of the centromere protein J gene, CENPJ (CPAP, MCPH6, SCKL4), which is a highly conserved and ubiquitiously expressed… Expand
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Highly Cited
2010
Highly Cited
2010
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
Primary microcephaly is a rare condition in which brain size is substantially diminished without other syndromic abnormalities… Expand
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Review
2008
Review
2008
Stem cells on the brain.
Mutations that cause autosomal recessive primary microcephaly (MCPH), including MCPH1 through MCPH6, have provided insight into… Expand
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2004
2004
Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations.
Patients with primary microcephaly, an autosomal recessive trait, have mild to severe mental retardation without any other… Expand
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2004
2004
Genetic analysis of primary microcephaly in Indian families : novel ASPM mutations
  • M Markandayaa, SC Girimajic
  • 2004
    • Corpus ID: 41934830
Patients with primary microcephaly, an autosomal recessive trait, have mild to severe mental retardation without any other… Expand
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Highly Cited
2003
Highly Cited
2003
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2.
Microcephaly is the clinical finding of a head circumference measurement greater than three standard deviations (SD) below the… Expand
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