Results 221 to 230 of about 211,860 (282)

Loss of vitamin D receptor induces premature ovarian insufficiency through compromising the 7-dehydrocholesterol-dependent anti-aging effects. [PDF]

Front Cell Dev Biol
Chen H, Wang Q, Zhang Y, Shangguan L, Zhu Z, Zhang H, Zou X, Geng Q, Wen Y, Wang D, Wang Y.   +10 more
europepmc   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Non-hormone replacement therapy to overcome premature ovarian insufficiency: advances in natural products and stem cells targeting autophagy. [PDF]

Front Endocrinol (Lausanne)
Yang X, Jia Z, Shi M, Li Y, Zhang G, Wang P, Sun X, Qi W, Guo Y.   +8 more
europepmc   +1 more source

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek, Lauren Jenner, Abigail L. Hogan, Laura Friedman, Elizabeth Berry‐Kravis, Flora Tassone, Tatyana Adayev, Amanda J. Fairchild, Jane E. Roberts   +8 more
wiley   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

Editorial: Genetics and epigenetics in ovarian aging. [PDF]

Front Endocrinol (Lausanne)
Reddi HV.
europepmc   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

Progerin mRNA Is Associated with Smoking and Signs of Increased Microvascular Damage in Patients with Diabetic Macular Edema. [PDF]

Int J Mol Sci
Zaruba MM, Angermann R, Staggl S, Jeyakumar V, Mair S, Stöckl V, Neyer J, Maurer T, Ungericht M, Gavranovic-Novakovic J, Bauer A, Zehetner C, Messner M.   +12 more
europepmc   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Untargeted metabolomics reveals homogeneity and heterogeneity between physiological and pathological ovarian aging. [PDF]

J Ovarian Res
Zeng L, Liang Y, Huang L, Li Z, Kumar M, Zheng X, Li J, Luo S, Zhu L.   +8 more
europepmc   +1 more source