Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease

B Cangiano, DS Swee, R Quinton, M Bonomi - Human genetics, 2021 - Springer
A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …

The neurodevelopmental hypothesis of schizophrenia, revisited

SH Fatemi, TD Folsom - Schizophrenia bulletin, 2009 - academic.oup.com
While multiple theories have been put forth regarding the origin of schizophrenia, by far the
vast majority of evidence points to the neurodevelopmental model in which developmental …

Single-nuclei isoform RNA sequencing unlocks barcoded exon connectivity in frozen brain tissue

SA Hardwick, W Hu, A Joglekar, L Fan, PG Collier… - Nature …, 2022 - nature.com
Single-nuclei RNA sequencing characterizes cell types at the gene level. However,
compared to single-cell approaches, many single-nuclei cDNAs are purely intronic, lack …

Cellular functions of FAK kinases: insight into molecular mechanisms and novel functions

MD Schaller - Journal of cell science, 2010 - journals.biologists.com
Focal adhesion kinase (FAK) and proline-rich tyrosine kinase 2 (Pyk2) are related tyrosine
kinases that have important cellular functions, primarily through regulation of the …

Exonic mosaic mutations contribute risk for autism spectrum disorder

DR Krupp, RA Barnard, Y Duffourd, SA Evans… - The American Journal of …, 2017 - cell.com
Genetic risk factors for autism spectrum disorder (ASD) have yet to be fully elucidated.
Postzygotic mosaic mutations (PMMs) have been implicated in several neurodevelopmental …

Asymmetrical β-actin mRNA translation in growth cones mediates attractive turning to netrin-1

KM Leung, FPG van Horck, AC Lin, R Allison… - Nature …, 2006 - nature.com
Local protein synthesis regulates the turning of growth cones to guidance cues, yet little is
known about which proteins are synthesized or how they contribute to directional steering …

[HTML][HTML] Both the establishment and the maintenance of neuronal polarity require active mechanisms: critical roles of GSK-3β and its upstream regulators

H Jiang, W Guo, X Liang, YI Rao - Cell, 2005 - cell.com
Axon-dendrite polarity is a cardinal feature of neuronal morphology essential for information
flow. Here we report a differential distribution of GSK-3β activity in the axon versus the …

Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate

Y Sun, Y Huang, A Yin, Y Pan, Y Wang, C Wang… - Nature …, 2015 - nature.com
Nonsyndromic cleft lip with or without a cleft palate (NSCL/P) is among the most common
human congenital birth defects and imposes a substantial physical and financial burden on …

Growth cone travel in space and time: the cellular ensemble of cytoskeleton, adhesion, and membrane

EA Vitriol, JQ Zheng - Neuron, 2012 - cell.com
Growth cones, found at the tip of axonal projections, are the sensory and motile organelles
of developing neurons that enable axon pathfinding and target recognition for precise wiring …

Regulation of axonal outgrowth and pathfinding by integrin–ECM interactions

JP Myers, M Santiago‐Medina… - Developmental …, 2011 - Wiley Online Library
Developing neurons use a combination of guidance cues to assemble a functional neural
network. A variety of proteins immobilized within the extracellular matrix (ECM) provide …