Results 181 to 190 of about 125,953 (296)

Genetics of Response to ECT, TMS, Ketamine and Esketamine

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Treatment‐resistant mood disorders are often managed with intensive interventions that include electroconvulsive therapy (ECT), transcranial magnetic stimulation (TMS), ketamine, and esketamine, but the role of genetics in clinical response to those interventions is yet to be clearly determined.
Clio E. Franklin, Murat Altinay, Kala Bailey, Mahendra T. Bhati, Brent R. Carr, Susan K. Conroy, Khurshid Khurshid, William M. McDonald, Brian J. Mickey, James W. Murrough, Sean M. Nestor, Thomas Nickl‐Jockschat, Irving M. Reti, Gerard Sanacora, Nicholas T. Trapp, Biju Viswanath, Jesse H. Wright, Peter P. Zandi, James B. Potash   +18 more
wiley   +1 more source

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

Hepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source

Occipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch Syndrome. [PDF]

Prenat Diagn
Carmant LS, Miller E, Chitayat D, Hedges S, McGivern B, Harris K, Chong K, Shinar S.   +7 more
europepmc   +1 more source

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino, Marco Calabrò, Carmenrita Infortuna, Maria Rosaria Anna Muscatello, Silvana Briuglia, Nicola Cicero, Chiara Fabbri, Alessandro Serretti, Concetta Crisafulli   +8 more
wiley   +1 more source

Smoking habit and long-term colorectal cancer incidence by exome-wide mutational and neoantigen loads: evidence based on the prospective cohort incident-tumour biobank method. [PDF]

BMJ Oncol
Hamada T, Ugai T, Gurjao C, Ugai S, Zhang X, Haruki K, Takashima Y, Akimoto N, Lau MC, Matsuda K, Nakazawa N, Higashioka M, Miyahara S, Kosumi K, Masugi Y, Liu L, Cao Y, Nevo D, Wang M, Nishihara R, Shukla SA, Wu CJ, Garraway LA, Meyerhardt JA, Giovannucci EL, Nowak JA, Fuchs CS, Chan AT, Song M, Giannakis M, Ogino S.   +30 more
europepmc   +1 more source

Jurkat T-cell lines exhibit marked genomic instability affecting karyotype, mutational profile, gene expression, immunophenotype and function. [PDF]

Sci Rep
Wilson A, Dasyam N, O'Hagan F, Farrell D, Turner C, Jay A, Schmidt A, Beddow R, Lillis T, Chin T, Perret R, McCulley M, Weinkove R.   +12 more
europepmc   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Development of a whole-exome sequencing kit to facilitate porcine biomedical research. [PDF]

Genome Biol
Vijayakumar V, Joshi T, Elkhadragy L, Schook LB, Gaba RC, El-Kebir M, Schachtschneider KM.   +6 more
europepmc   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Multi-omics insights into biomarkers of breast cancer associated diabetes: a computational approach. [PDF]

Front Med (Lausanne)
Loganathan T, Doss CGP.
europepmc   +1 more source