Results 111 to 120 of about 21,834 (238)

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Brain Gender and Transsexualism [PDF]

, 2007
Research by neuroscientists suggests there is a distinction in the BSTc area of the brain between males and females. In transsexual females, those considered male at birth, but who had a strong conviction that they were female, the BSTc region appears to
Kilty, Madeline
core  

Acute prefrontal hemodynamic responses to intermittent theta burst stimulation correlate with current depression and episode recurrence: A cross‐sectional study

Psychiatry and Clinical Neurosciences, EarlyView.
Background Mounting evidence has indicated that multiple major depressive disorder (MDD) episodes are correlated with brain morphometric changes that confer an increased recurrence risk. Functional abnormalities underlying this recurrent vulnerability remain underexplored.
Minxia Jin, Adam W.L. Xia, Wanda M.W. Chau, Nancy M.X.Y. Shi, Penny P. Qin, Bella B.B. Zhang, Rebecca L.D. Kan, Alvin H.P. Tang, Tim T.Z. Lin, Sharie X. Wang, Dicky W.S. Chung, Frank Padberg, Georg S. Kranz   +12 more
wiley   +1 more source

Disorders of sex development (DSD): an overview of recent scientific advances [PDF]

, 2014
Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by
Conway, GS
core  

Plasma REST: a novel candidate biomarker of Alzheimer's disease is modified by psychological intervention in an at-risk population. [PDF]

, 2017
The repressor element 1-silencing transcription (REST) factor is a key regulator of the aging brain's stress response. It is reduced in conditions of stress and Alzheimer's disease (AD), which suggests that increasing REST may be neuroprotective.
Ashton, NJ, Elliott, C, Gardner, A, Hye, A, Jones, AR, Killick, R, Leckey, CA, Lenze, EJ, Marchant, NL, Wetherell, JL   +9 more
core   +3 more sources

From senescence and inflammaging to systemic comorbidities: Drivers of aging‐associated periodontitis

Periodontology 2000, EarlyView.
Abstract Background Aging is accompanied by a chronic low‐grade inflammatory process, known as inflammaging, as well as immunosenescence, an age‐related decline and dysregulation of immune function, and cellular senescence, a process in which cells enter a state of irreversible growth arrest while actively releasing pro‐inflammatory factors.
James Cheng, Chew Tin Zar Aung, Samuel F. Suslavich, Sinem Esra Sahingur, Yvonne L. Hernandez‐Kapila   +4 more
wiley   +1 more source

Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development.

Reports of biochemistry & molecular biology
Disorders of sex development (DSDs) belong to uncommon pathologies and result from abnormalities during gonadal determination and differentiation. Various gene mutations involved in gonadal determination and differentiation have been associated with gonadal dysgenesis.
Azadeh, Shojaei, Reza, Ebrahimzadeh-Vesal, Ali, Ahani, Maryam, Razzaghy-Azar, Golnaz, Khakpour, Farideh, Ghazi, Javad, Tavakkoly-Bazzaz   +6 more
openaire   +2 more sources

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis

Case Reports in Endocrinology, 2018
Context. Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway. Case Description.
Giampaolo Papi, Rosa Maria Paragliola, Paola Concolino, Carlo Di Donato, Alfredo Pontecorvi, Salvatore Maria Corsello   +5 more
doaj   +1 more source

An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development [PDF]

, 2017
With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD
Ahmed, S.F., Bryce, J., Jiang, J., Kourime, M., Nixon, R., Rodie, M.   +5 more
core   +1 more source