Lista de obras - Muhammad Sajid Hussain - Dominio Público Uruguay

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

artículo científico publicado en 2015

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

artículo científico publicado en 2012

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan

artículo científico publicado en 2020

CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.

artículo científico publicado en 2016

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

artículo científico publicado en 2013

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

scientific article published on 18 April 2022

Genetic heterogeneity in Pakistani microcephaly families revisited.

artículo científico publicado en 2016

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

artículo científico publicado en 2014

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

artículo científico publicado en 2014

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome ⬇️

article

Nesprin-1 impact on tumorigenic cell phenotypes

artículo científico publicado en 2019

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

artículo científico publicado en 2010

Prevention of beta-thalassemia in a large Pakistani family through cascade testing.

artículo científico publicado en 2008

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis