List of works - Muhammad Sajid Hussain

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

scientific article published on 30 November 2015

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

scientific article

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

scientific article published on 17 July 2020

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

scientific article published on 21 December 2016

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

scientific article

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.

scientific article published on 22 December 2016

Meeting Report – Building a Centrosome ⬇️

scientific article published on August 1, 2013

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

scientific article

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

scientific article

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

article

Nesprin-1 impact on tumorigenic cell phenotypes

scientific article published on 18 November 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

scientific article

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

scientific article published on 15 January 2008

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

scientific article published on 16 November 2020

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies

scientific article

Unilateral L4-dorsal root ganglion stimulation evokes pain relief in chronic neuropathic postsurgical knee pain and changes of inflammatory markers: part II whole transcriptome profiling

scientific article published on 19 June 2019

List of works by Muhammad Sajid Hussain

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

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

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

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

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

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

Genetic heterogeneity in Pakistani microcephaly families revisited.

Meeting Report – Building a Centrosome ⬇️

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

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

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

Nesprin-1 impact on tumorigenic cell phenotypes

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

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

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

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies

Unilateral L4-dorsal root ganglion stimulation evokes pain relief in chronic neuropathic postsurgical knee pain and changes of inflammatory markers: part II whole transcriptome profiling