Results 41 to 50 of about 176,003 (260)
The sociability spectrum: evidence from reciprocal genetic copy number variations
Molecular Autism, 2020 Sociability entails some of the most complex behaviors processed by the central nervous system. It includes the detection, integration, and interpretation of social cues and elaboration of context-specific responses that are quintessentially species ...
Alejandro López-Tobón +2 more
doaj +1 more source
Decoding NF1 Intragenic Copy-Number Variations [PDF]
The American Journal of Human Genetics, 2015 Genomic rearrangements can cause both Mendelian and complex disorders. Currently, several major mechanisms causing genomic rearrangements, such as non-allelic homologous recombination (NAHR), non-homologous end joining (NHEJ), fork stalling and template switching (FoSTeS), and microhomology-mediated break-induced replication (MMBIR), have been proposed.
Hsiao, Meng-Chang +6 more
openaire +2 more sources
Molecular Medicine, 2021 Background Breast cancer is the most common neoplasia among women in developed countries. The risk factors of breast cancer can be distinguished in modifiable and unmodifiable factors and, among the latter, genetic factors play a key role.
Maria Santa Rocca +8 more
doaj +1 more source
Copy Number Variation and Schizophrenia [PDF]
Schizophrenia Bulletin, 2009 Over the last 12 months, a series of major articles have reported associations with schizophrenia of copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 22q12, and Neurexin 1 loci. These are rare high-penetrant mutations that increase risk not only of schizophrenia but also of a range of other psychiatric disorders including autism and mental ...
openaire +2 more sources
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 +10 more
wiley +1 more source
Molecular Genetics & Genomic Medicine, 2023 Background Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations and deletions in SMN1 at exon 7. The carrier frequency for SMN1 mutations ranges from 2 to 4% in the general population. Methods We examined allelic, genotypic
Faisal Ibrahim +7 more
doaj +1 more source
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 +17 more
wiley +1 more source
Molecular Genetics & Genomic Medicine, 2019 Background Mucopolysaccharidosis type I (MPS I) is a rare, recessively inherited lysosomal storage disorder, characterized by progressive multi‐systemic disease.
Amir Jahic +9 more
doaj +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 +2 more
wiley +1 more source
Copy number variations in alternative splicing gene networks impact lifespan.
PLoS ONE, 2013 Longevity has a strong genetic component evidenced by family-based studies. Lipoprotein metabolism, FOXO proteins, and insulin/IGF-1 signaling pathways in model systems have shown polygenic variations predisposing to shorter lifespan.
Joseph T Glessner +16 more
doaj +1 more source