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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.
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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2014
2014
Conserved TCP domain of Sas-4/CPAP is essential for pericentriolar material tethering during centrosome biogenesis
Significance In centrosomes, pericentriolar material (PCM) serves as the principle site for microtubule nucleation and anchoring… 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
Highly Cited
2012
Highly Cited
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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Highly Cited
2004
Highly Cited
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
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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