A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family
Published 2021 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family
Authors
Keywords
-
Journal
Genes
Volume 12, Issue 10, Pages 1494
Publisher
MDPI AG
Online
2021-09-27
DOI
10.3390/genes12101494
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- CEP135 associated primary microcephaly-A rare presentation in early second trimester
- (2021) Gayatri Nerakh et al. European Journal of Medical Genetics
- An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia
- (2020) Hanan E. Shamseldin et al. HUMAN GENETICS
- Mutation in CEP135 causing primary microcephaly and subcortical heterotopia
- (2020) Daniel Bamborschke et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- An update of pathogenic variants in ASPM , WDR62, CDK5RAP2 , STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan
- (2020) Sajida Rasool et al. Molecular Genetics & Genomic Medicine
- Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy
- (2020) David A. Parry et al. GENETICS IN MEDICINE
- Dissecting the Genetic and Etiological Causes of Primary Microcephaly
- (2020) Francesca Jean et al. Frontiers in Neurology
- RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
- (2020) Muhammad Farooq et al. Nature Communications
- The centrosome protein AKNA regulates neurogenesis via microtubule organization
- (2019) Germán Camargo Ortega et al. NATURE
- AKNA Frameshift Variant in Three Dogs with Recurrent Inflammatory Pulmonary Disease
- (2019) Hug et al. Genes
- The Genetics of Primary Microcephaly
- (2018) Divya Jayaraman et al. Annual Review of Genomics and Human Genetics
- XMAP215 is a microtubule nucleation factor that functions synergistically with the γ-tubulin ring complex
- (2018) Akanksha Thawani et al. NATURE CELL BIOLOGY
- Genomic and phenotypic delineation of congenital microcephaly
- (2018) Ranad Shaheen et al. GENETICS IN MEDICINE
- Strain-specific differences in brain gene expression in a hydrocephalic mouse model with motile cilia dysfunction
- (2018) Casey W. McKenzie et al. Scientific Reports
- A homozygous CEP135 mutation is associated with multiple morphological abnormalities of the sperm flagella (MMAF)
- (2017) Yan-Wei Sha et al. GENE
- Autosomal Recessive Primary Microcephaly (MCPH): An Update
- (2017) Deborah Morris-Rosendahl et al. NEUROPEDIATRICS
- Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies
- (2017) Virginia Mirra et al. Frontiers in Pediatrics
- CPAP promotes timely cilium disassembly to maintain neural progenitor pool
- (2016) Elke Gabriel et al. EMBO JOURNAL
- Cerebral cortex expansion and folding: what have we learned?
- (2016) Virginia Fernández et al. EMBO JOURNAL
- Genetics and biology of primary ciliary dyskinesia
- (2016) Amjad Horani et al. Paediatric Respiratory Reviews
- The kinetochore protein,CENPF, is mutated in human ciliopathy and microcephaly phenotypes
- (2015) Aoife M Waters et al. JOURNAL OF MEDICAL GENETICS
- A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function
- (2012) Muhammad Sajid Hussain et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Coordinate activation of inflammatory gene networks, alveolar destruction and neonatal death in AKNA deficient mice
- (2011) Wenbin Ma et al. CELL RESEARCH
- CEP290, a gene with many faces: mutation overview and presentation of CEP290base
- (2010) Frauke Coppieters et al. HUMAN MUTATION
- 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
- Prospective isolation of functionally distinct radial glial subtypes—Lineage and transcriptome analysis
- (2008) Luisa Pinto et al. MOLECULAR AND CELLULAR NEUROSCIENCE
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search