Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly.

Background: Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental and genetically heterogeneous disorder, characterized by small cranium size (> - 3 SD below mean) and often results in varying degree of intellectual disability. Thirty genes have been identified for the etiology of this disorder due to its clinical and genetic heterogeneity.

Methods And Results: Here, we report two consanguineous Pakistani families affected with MCPH exhibiting mutation in WDR62 gene.

Investigating the effects of a single ASPM variant (c.8508_8509) on brain architecture among siblings in a consanguineous Pakistani family.

Background: Autosomal Recessive Primary Microcephaly (MCPH) is a rare, neurodevelopmental disorder associated with mild to severe mental retardation. It is characterized by reduced cerebral cortex that ultimately leads to reduction in skull size less than - 3 S.D below the mean for normal individuals having same age and sex.

Genetic susceptibility of vitamin D receptor gene polymorphisms on autosomal recessive primary microcephaly patients in Pakistani population: a case-control and in-silico study.

Background: Autosomal recessive primary microcephaly (MCPH) is a rare genetic disorder that leads to reduced cerebral cortex caused by a mutation in corticogenesis. The expression of the Vitamin D receptor (VDR) gene is involved in the proliferation and differentiation of neural stem cells, and VDR polymorphisms have been associated with various neurological disorders. However, their relationship with MCPH has not been explored.

Varying magnetic field strength as an effective approach to boost up the plasma signal in laser-induced breakdown spectroscopy.

Externally variable magnetic field was incorporated with the combination of laser induced breakdown spectroscopy (LIBS) to enhance the emission characteristics of aluminum (Al) plasma. Significant emission enhancement of laser induced plasma (LIP) was obtained at different magnetic field strengths, for instance, enhancement factors of about 1.2, 1.

Therapeutical Significance of Serpina3n Subsequent Cerebral Ischemia via Cytotoxic Granzyme B Inactivation.

Ischemic stroke is a devastating CNS insult with few clinical cures. Poor understanding of underlying mechanistic network is the primary limitation to develop novel curative therapies. Extracellular accumulation of granzyme B subsequent ischemia promotes neurodegeneration.

The molecular genetics of selective tooth agenesis.

Selective tooth agenesis is a congenital disorder divided into two types based on the number of missing teeth, i.e. hypodontia which is the absence of <6 teeth and oligodontia which is agenesis of >6 permanent teeth excluding the third molars.