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Microcephaly, Primary Autosomal Recessive, 6

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

Topic mentions per year

Topic mentions per year

2003-2014
012320032014

Related topics

Related topics

3 relations
Autosomal recessive inheritanceIntellectual disability, moderate

Broader (1)

Microcephaly

Related mentions per year

Related mentions per year

1937-2018
19401960198020002020
Microcephaly, Primary Autosomal Recessive, 6
Autosomal recessive inheritance
Microcephaly
Intellectual disability, moderate

Papers overview

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2014
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… (More)
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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… (More)
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2013
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… (More)
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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… (More)
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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… (More)
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2010
2010
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.
BACKGROUND Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance… (More)
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2006
2006
Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene
Human autosomal recessive primary microcephaly (MCPH) is a rare genetic disorder in which affected individuals are born with… (More)
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2006
2006
A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly
AbstractAutosomal recessive primary microcephaly (MCPH) is a rare human genetic disorder in which the head circumference is… (More)
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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… (More)
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2003
2003
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2.
 
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