Results 91 to 100 of about 990,174 (349)

Role of estrogen and other sex hormones in brain aging: Neuroprotection and DNA repair [PDF]

, 2017
Aging is an inevitable biological process characterized by a progressive decline in physiological function and increased susceptibility to disease. The detrimental effects of aging are observed in all tissues, the brain being the most important one due ...
Gredilla, Ricardo, Stevnsner, Tinna, Zarate, Sandra Cristina   +2 more
core   +1 more source

Anxious to see you: Neuroendocrine mechanisms of social vigilance and anxiety during adolescence. [PDF]

, 2020
Social vigilance is a behavioral strategy commonly used in adverse or changing social environments. In animals, a combination of avoidance and vigilance allows an individual to evade potentially dangerous confrontations while monitoring the social ...
Cassano G. B., Gegenhuber B., Hollingworth S. A., Marler C. A., Park J., Pickett C. L., Williamson C. M.   +6 more
core   +1 more source

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini, Rosario Vasta, Alberto Brusati, Francesco Scheveger, Silvia Peverelli, Alessio Maranzano, Alberto Doretti, Francesco Gentile, Eleonora Colombo, Maura Brunetti, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Davide Gentilini, Stefano Messina, Federico Verde, Claudia Morelli, John E. Landers, Bryan J. Traynor, Adriano Chiò, Vincenzo Silani, Andrea Calvo, Antonia Ratti, Nicola Ticozzi   +24 more
wiley   +1 more source

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation [PDF]

, 2012
Patients with Disorders of Sex Development (DSD), especially those with gonadal dysgenesis and hypovirilization are at risk of developing malignant type II germ cell tumors/cancer (GCC) (seminoma/dysgerminoma and nonseminoma), with either carcinoma in ...
Alders, M. (Mariëlle), Bernard, P. (Pascal), Boer, S. (Suzan) de, Brüggenwirth, H.T. (Hennie), Drop, S.L.S. (Stenvert), Harley, V.R. (Vincent), Hersmus, R. (Remko), Looijenga, L.H.J. (Leendert), McElreavy, K. (Kenneth), Oosterhuis, J.W. (Wolter), Sreenivasan, R. (Rajini), Stoop, J.A. (Hans), White, S.J. (Stefan), Wolffenbuttel, K.P. (Katja), Zwan, Y.G. (Yvonne ) van der   +14 more
core   +1 more source

CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu, Wentao Chen, Yahong Wu, Zhen Guo, Jun Chen, Chen Tian, Pan Wang, Shaopeng Zeng, Bin Xu, Jing Duan, Shilong Han, Xiao Xiong, Jing Zhang   +12 more
wiley   +1 more source

Unveiling the Significance of the Androgen Receptor Gene in Disorders of Sex Development

Advances in Human Biology
Disorders of sex development (DSD) encompass a range of congenital conditions where the development of chromosomal, gonadal or anatomical sex is atypical. There are many genes associated with DSD, and one of them is the androgen receptor (AR) gene, which
Ziske Maritska, M Irsan Saleh, Fachmi Idris, Zen Hafy, Didit Pramudhito, Kemas Yusuf Effendi   +5 more
doaj   +1 more source

Malignant Germ Cell Tumors and Disorders of Sex Development [PDF]

, 2015
__Abstract__ The thesis focuses on selected disorders of sex development (DSD) with an increased risk of gonadal germ cell cancer (GCC) and aims to contribute to the refinement of management of the DSD at risk.
Kaprová-Pleskačová, J. (Jana)
core  

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency [PDF]

, 2009
OBJECTIVE. Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are ...
Achermann, J.C., Akkurt, I., Biebermann, H., Cetindag, C., Grüters, A., Hiort, O., Köhler, B., Lin, L., Mazen, I., Rossi, R.   +9 more
core   +2 more sources

Discontinuation of Immunotherapy in Patients With Relapsing Myelitis Without AQP4/MOG Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study assesses the outcomes of immunotherapy discontinuation in patients with relapsing seronegative idiopathic myelitis (SIM), a condition that remains uninvestigated due to its rarity. We reviewed records from 77 patients with relapsing SIM at the National Cancer Center of Korea, focusing on 11 who discontinued treatment after a median ...
Ki Hoon Kim, You‐Ri Kang, Jae‐Won Hyun, Su‐Hyun Kim, Ho Jin Kim   +4 more
wiley   +1 more source

Transverse testicular ectopia with disorders of sex development

Indian Journal of Urology, 2012
Transverse testicular ectopia (TTE) is a rare congenital anomaly. Although TTE often coexists with abnormalities such as inguinal hernia and persistent Mullerian duct syndrome, disorders of sex development (DSD) in combination with TTE is extremely rare.
Katsuya Aoki, Masaomi Kuwada, Kiyohide Fujimoto, Yoshihiko Hirao   +3 more
doaj   +1 more source