[HTML][HTML] The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM

X Wu, Z Li, ZQ Wang, X Xu - Frontiers in neuroscience, 2023 - frontiersin.org
Primary microcephaly (MCPH), is a neurological disorder characterized by small brain size
that results in numerous developmental problems, including intellectual disability, motor and …

[HTML][HTML] Congenital microcephaly: a debate on diagnostic challenges and etiological paradigm of the shift from isolated/non-syndromic to syndromic microcephaly

M Asif, U Abdullah, P Nürnberg, S Tinschert… - Cells, 2023 - mdpi.com
Congenital microcephaly (CM) exhibits broad clinical and genetic heterogeneity and is thus
categorized into several subtypes. However, the recent bloom of disease–gene discoveries …

[HTML][HTML] Genetic primary microcephalies: when centrosome dysfunction dictates brain and body size

S Farcy, H Hachour, N Bahi-Buisson, S Passemard - Cells, 2023 - mdpi.com
Primary microcephalies (PMs) are defects in brain growth that are detectable at or before
birth and are responsible for neurodevelopmental disorders. Most are caused by biallelic or …

[HTML][HTML] Identification of key genes unique to the luminal a and basal-like breast cancer subtypes via bioinformatic analysis

R Jia, Z Li, W Liang, Y Ji, Y Weng, Y Liang… - World journal of surgical …, 2020 - Springer
Background Breast cancer subtypes are statistically associated with prognosis. The search
for markers of breast tumor heterogeneity and the development of precision medicine for …

[HTML][HTML] Modifier genes in microcephaly: A report on WDR62, CEP63, RAD50 and PCNT variants exacerbating disease caused by Biallelic mutations of ASPM and …

EUH Makhdoom, SS Waseem, M Iqbal, U Abdullah… - Genes, 2021 - mdpi.com
Congenital microcephaly is the clinical presentation of significantly reduced head
circumference at birth. It manifests as both non-syndromic—microcephaly primary hereditary …

[HTML][HTML] Pathophysiological significance of WDR62 and JNK signaling in human diseases

Y Zhi, X Zhou, J Yu, L Yuan, H Zhang… - Frontiers in Cell and …, 2021 - frontiersin.org
The c-Jun N-terminal kinase (JNK) is highly evolutionarily conserved and plays important
roles in a broad range of physiological and pathological processes. The WD40-repeat …

Identification of Pathogenic Mutations in Primary Microcephaly‐ (MCPH‐) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families

NM Khan, MS Masoud, SM Baig… - BioMed Research …, 2022 - Wiley Online Library
Microcephaly (MCPH) is a developmental anomaly of the brain known by reduced cerebral
cortex and underdeveloped intellectual disability without additional clinical symptoms. It is a …

A Two-Base pair deletion in IQ repeats in ASPM underlies microcephaly in a Pakistani family

SF Naqvi, RMK Shabbir, A Tolun, S Basit… - Genetic Testing and …, 2022 - liebertpub.com
Aims: Autosomal recessive primary microcephaly (MCPH) is a clinically rare and genetically
highly heterogeneous developmental disorder. Biallelic variants in the abnormal spindle-like …

[HTML][HTML] Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia

M Asif, AIA Khayyat, S Alawbathani, U Abdullah… - Genetics in …, 2024 - Elsevier
Purpose Neurodevelopmental disorders exhibit clinical and genetic heterogeneity, ergo
manifest dysfunction in components of diverse cellular pathways; the precise …

[HTML][HTML] Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing primary microcephaly in consanguineous …

H Anwar, SM Baig, G Hussain - Pakistan journal of medical …, 2022 - ncbi.nlm.nih.gov
Methods: We studied two unrelated consanguineous families (family A and B) presenting> 2
patients with diagnostic symptoms of MCPH, born to asymptomatic parents. We employed …