Genome structural variation discovery and genoty**
Comparisons of human genomes show that more base pairs are altered as a result of
structural variation—including copy number variation—than as a result of point mutations …
structural variation—including copy number variation—than as a result of point mutations …
Ovarian aging: mechanisms and clinical consequences
FJ Broekmans, MR Soules, BC Fauser - Endocrine reviews, 2009 - academic.oup.com
Menopause is the final step in the process referred to as ovarian ageing. The age related
decrease in follicle numbers dictates the onset of cycle irregularity and the final cessation of …
decrease in follicle numbers dictates the onset of cycle irregularity and the final cessation of …
Pre-clinical study of induced pluripotent stem cell-derived dopaminergic progenitor cells for Parkinson's disease
Induced pluripotent stem cell (iPSC)-derived dopaminergic (DA) neurons are an expected
source for cell-based therapies for Parkinson's disease (PD). The regulatory criteria for the …
source for cell-based therapies for Parkinson's disease (PD). The regulatory criteria for the …
PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia
Recent genomic studies have identified chromosomal rearrangements defining new
subtypes of B-progenitor acute lymphoblastic leukemia (B-ALL), however many cases lack a …
subtypes of B-progenitor acute lymphoblastic leukemia (B-ALL), however many cases lack a …
Pervasive chromosomal instability and karyotype order in tumour evolution
Chromosomal instability in cancer consists of dynamic changes to the number and structure
of chromosomes,. The resulting diversity in somatic copy number alterations (SCNAs) may …
of chromosomes,. The resulting diversity in somatic copy number alterations (SCNAs) may …
[HTML][HTML] Pan-cancer immunogenomic analyses reveal genotype-immunophenotype relationships and predictors of response to checkpoint blockade
Summary The Cancer Genome Atlas revealed the genomic landscapes of human cancers.
In parallel, immunotherapy is transforming the treatment of advanced cancers. Unfortunately …
In parallel, immunotherapy is transforming the treatment of advanced cancers. Unfortunately …
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of
absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized …
absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized …
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk …
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk …
Recent ultra-rare inherited variants implicate new autism candidate risk genes
Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation
contributes significantly to risk. Using whole-genome sequencing data from 3,474 families …
contributes significantly to risk. Using whole-genome sequencing data from 3,474 families …
Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations
Human pluripotent stem cells (hPS cells) can self-renew indefinitely, making them an
attractive source for regenerative therapies. This expansion potential has been linked with …
attractive source for regenerative therapies. This expansion potential has been linked with …