Results 231 to 240 of about 41,593 (291)

A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala, Fabio Sirchia, Claudia Scotti, Elena Rossi, Roberta Falcioni, Silvano Ragozza, Antonella Casella, Enza Maria Valente, Cesare Danesino   +8 more
wiley   +1 more source

UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways. [PDF]

Genes (Basel)
Treccarichi S, Failla P, Vinci M, Musumeci A, Gloria A, Vasta A, Calabrese G, Papa C, Federico C, Saccone S, Calì F.   +10 more
europepmc   +1 more source

cGMP-mediated signalling via cGKIα is required for the guidance and connectivity of sensory axons

, 2003
Hannes Schmidt, Matthias Werner, Paul A. Heppenstall, Mechthild Henning, Margret I. Moré, Susanne Kühbandner, Gary R. Lewin, Franz Hofmann, Robert Feil, Fritz G. Rathjen   +9 more
openalex   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

A human DCC variant causing mirror movement disorder reveals that the WAVE regulatory complex mediates axon guidance by netrin-1-DCC. [PDF]

Sci Signal
Chaudhari K, Zhang K, Yam PT, Zang Y, Kramer DA, Gagnon S, Schlienger S, Calabretta S, Michaud JF, Collins M, Wang J, Srour M, Chen B, Charron F, Bashaw GJ.   +14 more
europepmc   +1 more source

Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL‐Related Disorders: A Cross‐Sectional Caregiver Survey Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limited studies have been conducted on pubertal development in populations with pre‐existing medical conditions. More than 20‐fold increased risk of early puberty has been reported in neurodevelopmental disorders; however, this is a heterogeneous group.
Amanda Piring, Rebecca Hicks, Julia Sloan, Estefania Ramires‐Sanchez, Bianca E. Russell   +4 more
wiley   +1 more source

m6A Methylation‐Induced Autophagy Impairment by TFEB Regulation in SOD1‐G93A ALS Cell Model

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT We investigate the role of m6A RNA methylation in regulating transcription factor EB (TFEB) and its contribution to mitochondrial autophagy (mitophagy) dysfunction in amyotrophic lateral sclerosis (ALS). ALS cell models were used to analyse mitophagy markers and TFEB expression under METTL3 and TFEB modulation, using RT‐qPCR, Western blot ...
Di An, Yuhao Wu, Jingzhe Han, Pingping Fang, Yi Bu, Guang Ji, Jinliang Deng, Xueqin Song   +7 more
wiley   +1 more source

The Versatile Roles of “Axon Guidance” Cues in Tissue Morphogenesis

, 2004
Lindsay Hinck
openalex   +1 more source

Elezanumab Accelerates Post‐Injury Regeneration of Olfactory Sensory Neurons in a Methimazole‐Induced Mouse Model

International Forum of Allergy &Rhinology, EarlyView.
Key Points Elezanumab accelerates olfactory sensory neuron regeneration in a methimazole‐induced mouse model. Repulsive guidance molecule A blockade increases GAP43+ and OMP+ cells dorsally while sparing basal cells. This approach offers a novel therapy for sensorineural olfactory disorder.
Eri Mori, Rumi Ueha, Hirotaka Tanaka, Hironobu Nishijima, Masayoshi Kobayashi, Nobuyoshi Otori, Kenji Kondo   +6 more
wiley   +1 more source

Tet-dependent 5-hydroxymethyl-Cytosine modification of mRNA regulates axon guidance genes in Drosophila. [PDF]

PLoS One
Singh BN, Tran H, Kramer J, Kirichenko E, Changela N, Wang F, Feng Y, Kumar D, Tu M, Lan J, Bizet M, Fuks F, Steward R.   +12 more
europepmc   +1 more source