Results 341 to 350 of about 5,260,709 (398)

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source

Risk factors for postoperative hypoalbuminemia in ovarian cancer: a predictive nomogram. [PDF]

BMC Womens Health
Chen Y, Hu S, Zhou S, Yang Z.
europepmc   +1 more source

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Nanotechnology-based drug delivery system for the diagnosis and treatment of ovarian cancer. [PDF]

Discov Oncol
Saripilli R, Sharma DK.
europepmc   +1 more source

Premenopausal bilateral oophorectomy and Alzheimer's disease imaging biomarkers later in life

Alzheimer's &Dementia, EarlyView.
Abstract INTRODUCTION Premenopausal bilateral oophorectomy (PBO) before the age of 46 years is associated with an increased risk of dementia. We investigated the long‐term effects of PBO performed before age 50 years on amyloid beta (Aβ), tau, and neurodegeneration imaging biomarkers of Alzheimer's disease (AD).
Kejal Kantarci, Ekta Kapoor, Jennifer R. Geske, Anna Castillo, Julie A. Fields, Firat Kara, Evdokiya E. Knyazhanskaya, Christopher G. Schwarz, Matthew L. Senjem, Kent R. Bailey, Val Lowe, Nathan K. LeBrasseur, Walter A. Rocca, Michelle M. Mielke   +13 more
wiley   +1 more source

The emerging role of glycolysis and immune evasion in ovarian cancer. [PDF]

Cancer Cell Int
Jin B, Miao Z, Pan J, Zhang Z, Yang Y, Zhou Y, Jin Y, Niu Z, Xu Q.   +8 more
europepmc   +1 more source

Targeting signaling pathways in neurodegenerative diseases: Quercetin's cellular and molecular mechanisms for neuroprotection

Animal Models and Experimental Medicine, EarlyView.
Quercetin regulates signaling pathways in neurodegenerative diseases, including NF‐κB, sirtuins, and PI3K/Akt. Studies show quercetin improves symptoms and pathology in neurodegenerative models. The study aims to incorporate laboratory research into practical medical treatment, focusing on quercetin's neuroprotective effects and optimal dosage ...
Md. Rezaul Islam, Md. Ibrahim Khalil Al‐Imran, Mehrukh Zehravi, Sherouk Hussein Sweilam, Mohammad Rakib Mortuza, Jeetendra Kumar Gupta, Thukani Sathanantham Shanmugarajan, Kadirvel Devi, Tanuja Tummala, Mohammed Ali Alshehri, Kalirajan Rajagopal, Mohammed Asiri, Irfan Ahmad, Talha Bin Emran   +13 more
wiley   +1 more source

Correction: Protein expression profiling identifies a prognostic model for ovarian cancer. [PDF]

BMC Womens Health
Xiong L, Tan J, Feng Y, Wang D, Liu X, Feng Y, Li S.   +6 more
europepmc   +1 more source

Identification of bioactive compounds and molecular targets of Fuke Huahuang formulation to treat vaginitis

Animal Models and Experimental Medicine, EarlyView.
Fuke Huahuang formulation (FHF) is used to treat vaginitis, and it exerts a promising anti‐inflammatory effect in clinical use. However, the detailed components and mechanisms of FHF for treating vaginitis remain unreported, and further preclinical evaluation is required to reveal its potential pharmacological activities against vaginitis.
Huiyu Liu, Jie Mo, Cheng Liang, Qingting Chen, Bin Yang, Jiaqi Liu   +5 more
wiley   +1 more source