Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

D40/KNL1/CASC5 and autosomal recessive primary microcephaly.

Congenital anomalies - 1 Nov 2017

Takimoto Masato

Abstract excerpt

Autosomal recessive primary microcephaly (MCPH) is a very rare neuro-developmental disease with brain size reduction. More than a dozen loci encoding proteins of diverse function have been shown to be responsible for MCPH1-13. Mutations in the D40/KNL1/CASC5 gene, which was initially characterized as a gene involved in chromosomal translocation in leukemia and as a member of the cancer/testis gene family, was...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Protein Domains
Share to Cell Cycle Proteins
Share to Kinetochores

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microcephaly

Share to Microtubule-Associated Proteins

Share to Microtubules

Share to Mitosis

Share to Protein Interaction Mapping

Source

Identifiers

PMID: 28901661
DOI: 10.1111/cga.12252

Genes

KNL1
MCPH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

D40/KNL1/CASC5 and autosomal recessive primary microcephaly.PMID 28901661Read ↗

Kinetochore KMN network gene CASC5 mutated in primary microcephaly.Semantic proximity Read ↗

Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH)Semantic proximity Read ↗

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.Semantic proximity Read ↗

Molecular genetics of human primary microcephaly: an overview.Semantic proximity Read ↗

Multifaceted Microcephaly-Related Gene MCPH1.Semantic proximity Read ↗

The Genetics of Primary Microcephaly.Semantic proximity Read ↗

Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.Semantic proximity Read ↗

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.Semantic proximity Read ↗

Many roads lead to primary autosomal recessive microcephaly.Semantic proximity Read ↗

Molecular and cellular basis of autosomal recessive primary microcephaly.Semantic proximity Read ↗

Dissecting the Genetic and Etiological Causes of Primary MicrocephalySemantic proximity Read ↗

Elucidating the Genetic Landscape, Phenotypic Spectrum, and Pathogenic Mechanisms in a Turkish Cohort with Primary Microcephaly.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.