Molecular genetics of human primary microcephaly: an overview

The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing

(2013) Christopher A. Tan et al.   BRAIN & DEVELOPMENT

DNA damage response in microcephaly development of MCPH1 mouse model

(2013) Zhong-Wei Zhou et al.   DNA REPAIR

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis

(2013) Salma Awad et al.   HUMAN MOLECULAR GENETICS

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

(2013) Heba Farag et al.   Orphanet Journal of Rare Diseases

Mcph1-Deficient Mice Reveal a Role for MCPH1 in Otitis Media

(2013) Jing Chen et al.   PLoS One

Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

(2012) Juliane Hoyer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

(2012) Muhammad Sajid Hussain et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel nonsenseCDK5RAP2mutation in a Somali child with primary microcephaly and sensorineural hearing loss

(2012) Alistair T. Pagnamenta et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microcephaly Gene Links Trithorax and REST/NRSF to Control Neural Stem Cell Proliferation and Differentiation

(2012) Yawei J. Yang et al.   CELL

CDK5RAP2 Expression During Murine and Human Brain Development Correlates with Pathology in Primary Autosomal Recessive Microcephaly

(2012) Lina Issa et al.   CEREBRAL CORTEX

Investigation of primary microcephaly in Bushehr province of Iran: novelSTILand ASPMmutations

(2012) E Papari et al.   CLINICAL GENETICS

Genetic heterogeneity in Pakistani microcephaly families

(2012) M Sajid Hussain et al.   CLINICAL GENETICS

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

(2012) A. Genin et al.   HUMAN MOLECULAR GENETICS

Transcriptomes of germinal zones of human and mouse fetal neocortex suggest a role of extracellular matrix in progenitor self-renewal

(2012) S. A. Fietz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The microcephaly gene aspm is involved in brain development in zebrafish

(2011) Hyun-Taek Kim et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

What’s the hype about CDK5RAP2?

(2011) Nadine Kraemer et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1–Cdc25 pathway

(2011) Ralph Gruber et al.   NATURE CELL BIOLOGY

Cdk5rap2 exposes the centrosomal root of microcephaly syndromes

(2011) Timothy L. Megraw et al.   TRENDS IN CELL BIOLOGY

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4

(2010) Duane L. Guernsey et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CDK5RAP2 is required for spindle checkpoint function

(2010) Xiaoying Zhang et al.   CELL CYCLE

The MIS12 complex is a protein interaction hub for outer kinetochore assembly

(2010) Arsen Petrovic et al.   JOURNAL OF CELL BIOLOGY

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly

(2010) H. Darvish et al.   JOURNAL OF MEDICAL GENETICS

Novel CENPJ mutation causes Seckel syndrome

(2010) M. S. Al-Dosari et al.   JOURNAL OF MEDICAL GENETICS

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

(2010) Ersan Kalay et al.   NATURE GENETICS

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

(2010) Timothy W Yu et al.   NATURE GENETICS

Establishment of a Mouse Model with Misregulated Chromosome Condensation due to Defective Mcph1 Function

(2010) Marc Trimborn et al.   PLoS One

Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline

(2010) J. N. Pulvers et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly

(2009) Arun Kumar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Compound heterozygous ASPM mutations in Pakistani MCPH families

(2009) Farooq Muhammad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family

(2009) Abdelkrim Saadi et al.   European Journal of Medical Genetics

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

(2009) S. Passemard et al.   NEUROLOGY

Many roads lead to primary autosomal recessive microcephaly

(2009) Angela M. Kaindl et al.   PROGRESS IN NEUROBIOLOGY

Primary microcephaly: do all roads lead to Rome?

(2009) Gemma K. Thornton et al.   TRENDS IN GENETICS

A novel function of CEP135 as a platform protein of C-NAP1 for its centriolar localization

(2008) Kyeongmi Kim et al.   EXPERIMENTAL CELL RESEARCH

The molecular landscape of ASPM mutations in primary microcephaly

(2008) A K Nicholas et al.   JOURNAL OF MEDICAL GENETICS

KNL1 and the CENP-H/I/K Complex Coordinately Direct Kinetochore Assembly in Vertebrates

(2007) Iain M. Cheeseman et al.   MOLECULAR BIOLOGY OF THE CELL

CDK5RAP2 Is a Pericentriolar Protein That Functions in Centrosomal Attachment of the γ-Tubulin Ring Complex

(2007) Ka-Wing Fong et al.   MOLECULAR BIOLOGY OF THE CELL