Primary microcephaly

Definition:

Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by reduced skull circumference and brain volume.

References:

[1]. Abubakar Moawia, et al. Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. Ann Neurol. 2017 Oct;82(4):562-577. [Content Brief]

[2]. Andrew DiStasio, et al. Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. Hum Mol Genet. 2017 Dec 15;26(24):4836-4848. [Content Brief]

[3]. Andrew P Jackson, et al. Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet. 2002 Jul;71(1):136-42. [Content Brief]

[4]. Anne Genin, et al. Kinetochore KMN network gene CASC5 mutated in primary microcephaly. Hum Mol Genet. 2012 Dec 15;21(24):5306-17. [Content Brief]

[5]. Arun Kumar, et al. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. Am J Hum Genet. 2009 Feb;84(2):286-90. [Content Brief]

[6]. C Geoffrey Woods, et al. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet. 2005 May;76(5):717-28. [Content Brief]

[7]. Carol-Anne Martin, et al. Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes Dev. 2016 Oct 1;30(19):2158-2172. [Content Brief]

[8]. Daniela A Braun, et al. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest. 2018 Oct 1;128(10):4313-4328. [Content Brief]

[9]. David A Parry, et al. Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy. Genet Med. 2021 Feb;23(2):408-414. [Content Brief]

[10]. Dianne Abuelo, et al. Microcephaly syndromes. Semin Pediatr Neurol. 2007 Sep;14(3):118-27. [Content Brief]

[11]. Duane L Guernsey, et al. Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. Am J Hum Genet. 2010 Jul 9;87(1):40-51. [Content Brief]

[12]. Francesca Cristofoli, et al. De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity. Am J Hum Genet. 2020 Oct 1;107(4):753-762. [Content Brief]

[13]. Ghayda M Mirzaa, et al. Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Hum Genet. 2014 Aug;133(8):1023-39. [Content Brief]

[14]. Jacquelyn Bond, et al. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet. 2005 Apr;37(4):353-5. [Content Brief]

[15]. Jacquelyn Bond, et al. ASPM is a major determinant of cerebral cortical size. Nat Genet. 2002 Oct;32(2):316-20. [Content Brief]

[16]. James Cox, et al. What primary microcephaly can tell us about brain growth. Trends Mol Med. 2006 Aug;12(8):358-66. [Content Brief]

[17]. Muhammad Farooq, et al. RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis. Nat Commun. 2020 Nov 16;11(1):5816. [Content Brief]

[18]. Muhammad S Hussain, et al. CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. Hum Mol Genet. 2013 Dec 20;22(25):5199-214. [Content Brief]

[19]. Muhammad Sajid Hussain, et al. A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J Hum Genet. 2012 May 4;90(5):871-8. [Content Brief]

[20]. Muzammil A Khan, et al. A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. Hum Mol Genet. 2014 Nov 15;23(22):5940-9. [Content Brief]

[21]. Rotem Kadir, et al. ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size. PLoS Genet. 2016 Mar 23;12(3):e1005919. [Content Brief]

[22]. Salma Awad, et al. Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. Hum Mol Genet. 2013 Jun 1;22(11):2200-13. [Content Brief]

[23]. Shinya Yamamoto, et al. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25;159(1):200-214. [Content Brief]

[24]. Sulman Basit, et al. CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly. Hum Genet. 2016 Oct;135(10):1199-207. [Content Brief]

[25]. V Bhat, et al. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. Clin Genet. 2011 Dec;80(6):532-40. [Content Brief]

[26]. Vafa Alakbarzade, et al. A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. Nat Genet. 2015 Jul;47(7):814-7. [Content Brief]

[27]. Yawei J Yang, et al. Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. Cell. 2012 Nov 21;151(5):1097-112. [Content Brief]

[28]. Yonatan Perez, et al. Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish. Brain. 2019 Mar 1;142(3):574-585. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.