Browsing by Author "Kaindl, Angela M."
Now showing items 1-9 of 9
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Abnormal brain structure and behavior in MyD88-deficient mice.
( Elsevier , 2021 , Article)While the original protein Toll in Drosophila melanogaster regulates both host defense and morphogenesis, the role of its ortholog Toll-like receptors (TLRs), the interleukin 1 receptor (IL-1R) family, and the associated ... -
Autosomal Recessive Primary Microcephaly: Not Just a Small Brain
( Frontiers Media , 2022 , Article Review)Microcephaly or reduced head circumference results from a multitude of abnormal developmental processes affecting brain growth and/or leading to brain atrophy. Autosomal recessive primary microcephaly (MCPH) is the prototype ... -
Congenital microcephaly-linked CDK5RAP2 affects eye development
( Wiley , 2020 , Article)Biallelic mutations in the cyclin-dependent kinase 5 regulatory subunit-associated protein 2 gene CDK5RAP2 cause autosomal recessive primary microcephaly type 3 (MCPH3). MCPH is characterized by intellectual disability and ... -
Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability
( BMJ Publishing Group , 2021 , Article)Minichromosomal maintenance (MCM) complex components 2, 4, 5 and 6 have been linked to human disease with phenotypes including microcephaly and intellectual disability. The MCM complex has DNA helicase activity and is ... -
Immunofluorescence Staining of Paraffin Sections Step by Step.
( Frontiers Media , 2020 , Article)Immunofluorescence staining is the most frequently applied technique to detect and visualize various molecules in biological samples. Many protocols can be found in the literature and the websites of commercial antibody ... -
Proteome changes in autosomal recessive primary microcephaly
( Wiley , 2022 , Article)Background/aim: : Autosomal recessive primary microcephaly (MCPH) is a rare and genetically heterogeneous group of disorders characterized by intellectual disability and microcephaly at birth, classically without further ... -
Proteomic profile in congenital microcephaly
( Qatar University Press , 2021 , Poster)Autosomal recessive primary microcephaly (MCPH) consists of a group of disorders characterized by microcephaly and intellectual disability. This study is essential to complement previous findings of MCPH as it helps clarify ... -
PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients
( Springer , 2022 , Article)Homozygous variants in the peptidyl-tRNA hydrolase 2 gene (PTRH2) cause infantile-onset multisystem neurologic, endocrine, and pancreatic disease. The objective is to delineate the mechanisms underlying the core cerebellar ... -
Role of Cdk5rap2 in neocortical inhibition and excitation balance
( Qatar University Press , 2020 , Poster)Autosomal recessive primary microcephaly type 3 (MCPH3) is characterized by congenital microcephaly and intellectual disability. Further features include hyperactivity and seizures. The disease is caused by biallelic ...
