Accès ouvert
2026
article
OpenAlex
Iryna Leshchyns’ka, Debjani Das, Victoria C. O׳Reilly, Alena Sipka et autres
The spectrum of congenital malformations in VACTERL association varies among patients and can be differentially diagnosed with CHARGE syndrome, Fanconi anaemia, and others (reviewed in Solomon 2011). Despite overlapping clinical findings, the genetic causes of these diseases are distinct. In this context, …
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Accès ouvert
2025
article
OpenAlex
Visakuo Tsurho, Carla Gilliland, Jessica Ensing, Elizabeth VanSickle et autres
Developmental NAD + deficiency is associated with diverse congenital malformations. Congenital NAD deficiency disorder (CNDD) is a multisystem developmental condition characterized by cardiac, renal, vertebral, and limb anomalies, among others. It is caused by biallelic pathogenic variants in genes involved in the …
us
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Accès ouvert
2025
preprint
OpenAlex
Visakuo Tsurho, Carla Gilliland, Jessica Ensing, Elizabeth VanSickle et autres
Abstract Congenital NAD deficiency disorder (CNDD) is a multisystem condition in which cardiac, renal, vertebral, and limb anomalies are most common, but anomalies in all organ systems have been identified. Patients with this condition have biallelic pathogenic variants involving genes in the …
us
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Accès ouvert
2024
article
OpenAlex
Charlotte Herbst, Viktoria Bothe, Meret Wegler, Susanne Axer-Schaefer et autres
Neurons form the basic anatomical and functional structure of the nervous system, and defects in neuronal differentiation or formation of neurites are associated with various psychiatric and neurodevelopmental disorders. Dynamic changes in the cytoskeleton are essential for this process, which is, inter …
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Accès ouvert
2024
article
OpenAlex
Christine Bergeon Burns, Elizabeth VanSickle, Paul R. Mark, Jeremy W. Prokop
Biallelic pathogenic variants in mitochondrial tryptophanyl tRNA synthetase 2 (WARS2; HGNC:12730) cause neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS; OMIM 617710). First reported in 2017, 31 patients with WARS2-related disorder have been described. Features include …
us
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Accès ouvert
2023
preprint
OpenAlex
Charlotte Herbst, Viktoria Bothe, Meret Wegler, Susanne Axer-Schaefer et autres
Abstract Neurons form the basic anatomical and functional structure of the nervous system, and defects in neuronal differentiation or formation of neurites are associated with various psychiatric and neurodevelopmental disorders. Dynamic changes in the cytoskeleton are essential for this process, which is, …
us, de, fr, au, il, kr
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Accès ouvert
2023
article
OpenAlex
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian et autres
Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier EZH1 as the cause of dominant and recessive neurodevelopmental disorders …
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Accès ouvert
2022
article
OpenAlex
Janina Sörmann, Marcus Schewe, Peter Proks, Thibault R. H. Jouen-Tachoire et autres
Abstract Sleep apnea is a common disorder that represents a global public health burden. KCNK3 encodes TASK-1, a K + channel implicated in the control of breathing, but its link with sleep apnea remains poorly understood. Here we describe a new developmental …
gb, de, us
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Accès ouvert
2022
preprint
OpenAlex
Paul R. Mark, Stephen A. Murray, Tao Yang, Alexandra Eby et autres
analysis using multiple human/mouse data sets reveals a correlation to patient phenotypes of Peters plus syndrome with additional severe cardiomyopathy and blood vessel development complications linked to neural crest cells.
us
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2022
article
OpenAlex
Paul R. Mark, Sally L. Dunwoodie
BACKGROUND: Nicotinamide adenine dinucleotide (NAD+) depletion is associated with numerous diseases in humans. Recently it was revealed that genetic blockage of the NAD+ synthesis pathway in humans causes birth defects in multiple organ systems and miscarriage. Additionally, mice with NAD+ deficiency created …
us, au
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Accès ouvert
2022
article
OpenAlex
Sayaka Kayumi, Luis Alberto Pérez-Jurado, María Palomares‐Bralo, Sneha A. Rangu et autres
PURPOSE: Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most frequent, recurrent monogenic cause of cerebral palsy (CP). We investigated the range of clinical phenotypes owing to disruptions of CTNNB1 …
au, es, us, gb, fr, nl
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Accès ouvert
2022
preprint
OpenAlex
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Chul‐Hwan Lee et autres
Abstract Genetic disruption of chromatin regulators is frequently found in neurodevelopmental disorders (NDDs). While chromatin regulators are attractive therapeutic targets, studies to determine their implication in the etiology of NDDs are limited, preventing advances in diagnosis and treatment strategies. Here, we uncover …
us, kr, es, gb, sa, pk, it, ch
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