Results 221 to 230 of about 53,350 (292)

Pubertal development and hypothalamic–pituitary–gonadal axis are altered in male mice lacking Mecp2

open access: yesJournal of Neuroendocrinology, Volume 38, Issue 7, July 2026.
Abstract Mutations in the MECP2 gene, encoding the epigenetic reader Methyl‐CpG binding protein 2, are the main cause of Rett syndrome, a rare neurodevelopmental disorder. Besides severe symptoms such as profound intellectual disability, loss of speech and motor skills, and epilepsy, loss of function of MECP2 has been associated with pubertal ...
Ana Martín‐Sánchez   +6 more
wiley   +1 more source

POLG‐Related Parkinsonism with Good Response to Deep Brain Stimulation

open access: yes
Movement Disorders Clinical Practice, Volume 13, Issue 7, Page 1748-1751, July 2026.
Evdokia Efthymiou   +4 more
wiley   +1 more source

Single‐nuclei RNA sequencing reveals heterogeneity within developing GnRH3 neurons in zebrafish

open access: yesJournal of Neuroendocrinology, Volume 38, Issue 7, July 2026.
Abstract Gonadotropin‐releasing hormone (GnRH) is a central regulator of vertebrate reproduction regulating pituitary gonadotropins. In zebrafish, GnRH3 serves as the hypophysiotropic isoform. Its neurons develop by migrating from the nasal placode to the hypothalamus, forming several distinct subpopulations along the migratory path.
Yalong Sun   +4 more
wiley   +1 more source

Endocrine-related osteoporosis: the state of the art. [PDF]

open access: yesFront Endocrinol (Lausanne)
Chiodini I   +6 more
europepmc   +1 more source

Escape From X‐Chromosome Inactivation Enables Survival in a Male With an Unbalanced X;19 Translocation

open access: yesAnnals of the New York Academy of Sciences, Volume 1561, Issue 1, July 2026.
This study examines a rare inherited unbalanced X;19 translocation in a male proband and shows that silencing of the translocated chromosome 19 segment is incomplete. Allele‐specific expression analysis indicates that several informative chromosome 19 genes escape silencing, helping preserve essential autosomal dosage and likely contributing to ...
Onur Emre Onat, Tayfun Ozcelik
wiley   +1 more source

<i>HSD17B4</i>-Related Disorder: Defining the Phenotype in Adult-Onset Patients. [PDF]

open access: yesNeurol Genet
Falcone GMI   +6 more
europepmc   +1 more source

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