Results 251 to 260 of about 249,621 (311)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

JUND-driven stress-responsive astrocytes promote neuronal apoptosis via enhanced gap junction signaling in autism spectrum disorder. [PDF]

open access: yesMol Autism
Wang Q   +13 more
europepmc   +1 more source

Exosome‐mediated gut–brain axis signaling in neurodegenerative diseases: Mechanisms, experimental evidence, and therapeutic perspectives—A narrative review

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The gut–brain axis is a bidirectional communication network between the intestines and brain, mediated by gut microbiota and exosomes, that regulates neuroinflammation, protein aggregation, and neuronal health processes central to neurodegenerative diseases.
Waheeb Sami Aggad   +9 more
wiley   +1 more source

Cellular and subcellular heterogeneity of astrocytic Na⁺ homeostasis tuning astrocytes into functionally distinct subgroups in the mouse brain. [PDF]

open access: yesNat Commun
Meyer J   +12 more
europepmc   +1 more source

The adhesion GPCR ADGRV1 controls glutamate homeostasis in hippocampal astrocytes supporting neurons. [PDF]

open access: yesActa Neuropathol Commun
Güler BE   +4 more
europepmc   +1 more source

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