Cerebellum lecture: the cerebellar nuclei—core of the cerebellum

JM Kebschull, F Casoni, GG Consalez, D Goldowitz… - The Cerebellum, 2024 - Springer
The cerebellum is a key player in many brain functions and a major topic of neuroscience
research. However, the cerebellar nuclei (CN), the main output structures of the cerebellum …

Development and developmental disorders of the human cerebellum

HJ ten Donkelaar, WFA den Dunnen… - … disorders of the human …, 2023 - Springer
The cerebellum is one of the best studied parts of the brain. The cerebellar cortex is
composed of four main types of neurons: granule cells, Purkinje cells, and two types of …

Massively parallel characterization of regulatory elements in the develo** human cortex

C Deng, S Whalen, M Steyert, R Ziffra, PF Przytycki… - Science, 2024 - science.org
Nucleotide changes in gene regulatory elements are important determinants of neuronal
development and diseases. Using massively parallel reporter assays in primary human cells …

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

EA Werren, GR LaForce, A Srivastava… - Nature …, 2024 - nature.com
THOC6 variants are the genetic basis of autosomal recessive THOC6 Intellectual Disability
Syndrome (TIDS). THOC6 is critical for mammalian Transcription Export complex (TREX) …

Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia

Y Nakamura, IS Shimada, R Maroofian, M Falabella… - Brain, 2024 - academic.oup.com
Patatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-
independent phospholipase A2 enzymes, is involved in various physiological processes …

Bioinformatics analysis of next generation sequencing data identifies molecular biomarkers associated with type 2 diabetes mellitus

V Alur, V Raju, B Vastrad, C Vastrad… - Clinical Medicine …, 2023 - journals.sagepub.com
Background: Type 2 diabetes mellitus (T2DM) is the most common metabolic disorder. The
aim of the present investigation was to identify gene signature specific to T2DM. Methods …

The Heterochromatin protein 1 is a regulator in RNA splicing precision deficient in ulcerative colitis

J Mata-Garrido, Y ** human cortex
C Deng, S Whalen, M Steyert, R Ziffra, PF Przytycki… - …, 2023 - pmc.ncbi.nlm.nih.gov
Nucleotide changes in gene regulatory elements are important determinants of neuronal
development and disease. Using massively parallel reporter assays in primary human cells …

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

JX Chong, SI Berger, S Baxter, E Smith, C **ao… - Genetics in …, 2024 - Elsevier
Since the first novel gene discovery for a Mendelian condition was made via exome
sequencing, the rapid increase in the number of genes known to underlie Mendelian …

TMEM161B modulates radial glial scaffolding in neocortical development

L Wang, C Heffner, K Vong, C Barrows, YJ Ha… - Proceedings of the …, 2023 - pnas.org
TMEM161B encodes an evolutionarily conserved widely expressed novel 8-pass
transmembrane protein of unknown function in human. Here we identify TMEM161B …