Results 51 to 60 of about 475,380 (299)

Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism

bioRxiv, 2020
Reciprocal deletion and duplication of 16p11.2 region is the most common copy number variation (CNV) associated with Autism Spectrum Disorders. We generated cortical organoids from skin fibroblasts of patients with 16p11.2 CNV to investigate impacted ...
J. Urresti, Pan Zhang, Patricia Moran-Losada, Nam-Kyung Yu, P. Negraes, C. Trujillo, D. Antaki, Megha Amar, Kevin F. Chau, A. Pramod, J. Diedrich, Leon Tejwani, Sarah Romero, J. Sebat, J. Yates, A. Muotri, L. Iakoucheva   +16 more
semanticscholar   +1 more source

Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population

JAMA psychiatry, 2020
This cohort study evaluates the suitability of including pathogenic copy number variants associated with neuropsychiatric disorders in population screening by determining their prevalence and penetrance and exploring the personal utility of disclosing ...
C. Martin, K. Wain, M. Oetjens, K. Tolwinski, Emily Palen, Abby E. Hare-Harris, L. Habegger, E. Maxwell, J. Reid, L. Walsh, S. Myers, D. Ledbetter   +11 more
semanticscholar   +1 more source

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

Genome Medicine, 2020
Exome sequencing (ES) is a first-tier diagnostic test for many suspected Mendelian disorders. While it is routine to detect small sequence variants, it is not a standard practice in clinical settings to detect germline copy-number variants (CNVs) from ES
R. Rajagopalan, J. Murrell, Minjie Luo, L. Conlin   +3 more
semanticscholar   +1 more source

Psychotic symptoms in 16p11.2 copy number variant carriers [PDF]

Autism Research, 2019
Abstract16p11.2 copy number variation (CNV) is implicated in neurodevelopmental disorders, with the duplication and deletion associated with autism spectrum disorder (ASD) and the duplication associated with schizophrenia (SCZ). The 16p11.2 CNV may therefore provide insight into the relationship between ASD and SCZ, distinct disorders that co-occur at ...
Jutla, Amandeep, Turner, J. Blake, Snyder, LeeAnne Green, Chung, Wendy K., Veenstra-VanderWeele, Jeremy   +4 more
openaire   +2 more sources

Gene copy-number polymorphism caused by retrotransposition in humans. [PDF]

PLoS Genetics, 2013
The era of whole-genome sequencing has revealed that gene copy-number changes caused by duplication and deletion events have important evolutionary, functional, and phenotypic consequences. Recent studies have therefore focused on revealing the extent of
Daniel R Schrider, Fabio C P Navarro, Pedro A F Galante, Raphael B Parmigiani, Anamaria A Camargo, Matthew W Hahn, Sandro J de Souza   +6 more
doaj   +1 more source

Exploring Preferences for a Digital Single‐Session Intervention for Adolescent Siblings of Youth With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Adolescent siblings of children with cancer are at elevated risk for psychosocial problems. Unfortunately, various barriers such as limited family time and resources, conflicting schedules, and psychosocial staffing constraints at cancer centers hinder sibling access to support.
Christina M. Amaro, Sarah Silver, Prishi Patel, Meredith K. Reffner Collins, Kimberly S. Canter, Stephanie Fooks‐Parker, Michael Amylon, Shawna V. Hudson, Jessica L. Schleider, Melissa A. Alderfer, Katie A. Devine   +10 more
wiley   +1 more source

Genetic variants in nuclear DNA along with environmental factors modify mitochondrial DNA copy number: a population-based exome-wide association study

BMC Genomics, 2018
Background Mitochondrial DNA (mtDNA) copy number has been found associated with multiple diseases, including cancers, diabetes and so on. Both environmental and genetic factors could affect the copy number of mtDNA.
Zhihua Li, Meng Zhu, Jiangbo Du, Hongxia Ma, Guangfu Jin, Juncheng Dai   +5 more
doaj   +1 more source

Frequent copy number variants in a cohort of Mexican-Mestizo individuals

Molecular Cytogenetics, 2023
Background The human genome presents variation at distinct levels, copy number variants (CNVs) are DNA segments of variable lengths that range from several base pairs to megabases and are present at a variable number of copies in human genomes.
Silvia Sánchez, Ulises Juárez, Julieta Domínguez, Bertha Molina, Rehotbevely Barrientos, Angélica Martínez-Hernández, Alessandra Carnevale, Patricia Grether-González, Dora Gilda Mayen, Camilo Villarroel, Esther Lieberman, Emiy Yokoyama, Victoria Del Castillo, Leda Torres, Sara Frias   +14 more
doaj   +1 more source

Efficacy and Tolerability of Topotecan/Cyclophosphamide/Dinutuximab in Relapsed and Refractory High‐Risk Neuroblastoma: A Multi‐Institutional Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Chemoimmunotherapy with irinotecan, temozolomide, and dinutuximab (I/T/DIN) has emerged as first‐line therapy for relapsed/refractory (r/r) high‐risk neuroblastoma (HRNB) in North America. Topotecan and cyclophosphamide (T/C) are often used in combination with dinutuximab in the setting of lack of response, progression, or incomplete ...
Benjamin J. Lerman, Madeleine King, Rajen Mody, Sara‐Jane Onyeama, Araz Marachelian, Thomas Cash, Sara M. Federico, Meaghan Granger, Ami V. Desai, Suzanne Shusterman, Jennifer H. Foster, Elizabeth Sokol, Chelsee Greer, Keri Streby, Holly J. Meany, Kieuhoa T. Vo, Margaret E. Macy, Rochelle Bagatell   +17 more
wiley   +1 more source

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source