Results 71 to 80 of about 19,944 (229)

Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report

BMC Medical Genetics, 2007
Background The association between premature ovarian failure (POF) and the FMR1 repeat number (41> CGGn< 200) has been widely investigated. Current findings suggest that the risk estimation for POF can be calculated in the offspring of women with pre ...
D'Urso Michele, Chiurazzi Pietro, Laperuta Carmela, Miano Maria, Ursini Matilde   +4 more
doaj   +1 more source

Postpartum Depression in Women with the FMR1 Premutation [PDF]

Current Psychiatry Reviews, 2013
Psychiatric disorders in women with the FMR1 premutation are common and include attention deficit hyperactivity disorder, anxiety, depression, and eating disorders. This pilot study explored the risk factors for postpartum depression (PPD) in women with the premutation.We conducted a chart review of 50 women premutation carriers with major depressive ...
Roberta W, Obadia, Ana-Maria, Iosif, Andreea L, Seritan   +2 more
openaire   +2 more sources

Innovative 3D‐bioprinted microfibers in calcium phosphate cement platform with Nell‐1 to activate nerve‐bone axis for synergistic bone, vasculature, and nanofibrous nerve regeneration

Smart Molecules, EarlyView.
A 3D‐bioprinted platform with stem cells activates “nerve‐bone” signaling by enabling the spatiotemporal delivery of Nell‐1. This activation enhances neurovascular and bone regeneration through the CYFIP1 cascade. In rat calvarial defects, the platform doubled bone regeneration and nerve repair and tripled vascular density, resulting in superior ...
Minjia Zhu, Xinyi Li, Jingyi Li, Kan Yu, Zixiang Dai, Le Xiao, Qinrou Zhang, Zihan Jia, Qingchen Qiao, Zeqing Zhao, Ke Zhang, Yuxing Bai   +11 more
wiley   +1 more source

Association Between Blood Transfusion for Postpartum Haemorrhage and the Risk of Premature Ovarian Failure: A Nationwide Population‐Based Cohort Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To investigate the association between postpartum haemorrhage (PPH) severity and the subsequent risk of premature ovarian failure (POF), with blood transfusion used as a marker of severe PPH: Design Nationwide population‐based retrospective cohort study. Setting Korean National Health Insurance Service (KNHIS) database.
Min‐A Kim, Ju Hyeong Son, Hyun‐Joo Seol, Min‐Jeong Oh, Geum Joon Cho, Young‐Han Kim   +5 more
wiley   +1 more source

FMR1 Reactivating Treatments in Fragile X iPSC-Derived Neural Progenitors In Vitro and In Vivo

Cell Reports, 2019
Summary: Fragile X syndrome (FXS) is caused primarily by a CGG repeat expansion in the FMR1 gene that triggers its transcriptional silencing. In order to investigate the regulatory layers involved in FMR1 inactivation, we tested a collection of chromatin
Dan Vershkov, Nina Fainstein, Sapir Suissa, Tamar Golan-Lev, Tamir Ben-Hur, Nissim Benvenisty   +5 more
doaj   +1 more source

Effects of lifelong sulforaphane intake on behavioural, neurochemical and biomolecular dysfunctions in the BTBR T+ Itpr3tf/J mouse model of autism spectrum disorders

British Journal of Pharmacology, EarlyView.
Created in BioRender. Schiavone, S. (2026). https://BioRender.com/cy0xq6z. Abstract Background and Purpose Autism spectrum disorders (ASD) are multifactorial neurodevelopmental conditions associated with oxidative stress and neuroinflammation across critical developmental periods.
Vladyslav Sikora, Maria Bove, Lisa Pia Agosti, Rossella Pia Palmieri, Mohsin Zafar, Paolo Tucci, Maria Grazia Morgese, Stefania Schiavone, Luigia Trabace   +8 more
wiley   +1 more source

Fmr1 exon 14 skipping in late embryonic development of the rat forebrain

BMC Neuroscience, 2022
Background Fragile X syndrome, the major cause of inherited intellectual disability among men, is due to deficiency of the synaptic functional regulator FMR1 protein (FMRP), encoded by the FMRP translational regulator 1 (FMR1) gene.
Juliana C. Corrêa-Velloso, Alessandra M. Linardi, Talita Glaser, Fernando J. Velloso, Maria P. Rivas, Renata E P. Leite, Lea T. Grinberg, Henning Ulrich, Michael R. Akins, Silvana Chiavegatto, Luciana A. Haddad   +10 more
doaj   +1 more source

Memantine fully restored the intensity of excitatory synapses to a normal range in Fmr1-KO CGCs.

, 2013
Representative photomicrographs of labeling of VGLUT1 (arrow) in WT CGCs, Fmr1-KO CGCs and Fmr1-KO CGCs treated with memantine. Red, VGLUT1; Blue, Hoechst, scale bars, 25 µm. The histogram shows quantification of puncta size using image analysis. WT, n = 
W. Ted Brown (167450), Xiaohong Li (71964), Hongen Wei (323077), Mazhar Malik (323081), Ashfaq M. Sheikh (323080), Carl Dobkin (323079)   +5 more
core   +1 more source

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult‐Onset Primary Lateral Sclerosis‐Like Syndrome

Clinical Genetics, EarlyView.
A 43‐year‐old woman developed a progressive adult‐onset upper motor neuron syndrome fulfilling the clinical criteria for primary lateral sclerosis (PLS), with mild cerebellar involvement. Genetic testing identified a de novo ATP1A3 p.Arg995His variant affecting a highly conserved residue within the transmembrane M8 domain.
Pablo Hernandez‐Vitorique, Marta García de Burgos, Ana Campos Villegas, María José Gómez Heredia, Pilar Carbonell Corvillo   +4 more
wiley   +1 more source

Challenges in Gene‐Directed Therapies for Rare Neurodevelopmental Disorders Using HNRNPU as an Exemplar

Clinical Genetics, EarlyView.
Beyond diagnosing rare neurodevelopmental disorders like HNRNPU‐RNDD, developing gene‐directed therapies requires overcoming complex hurdles, including spatial, developmental, and cell‐type constraints. Addressing these requires understanding the molecular effects of dosage and chromatin dynamics to deliver precise, effective treatments.
Daniel Aiyedun, Susan F. Rogers, Doaa M. Taha, Meena Balasubramanian   +3 more
wiley   +1 more source