Results 101 to 110 of about 58,582 (311)
Advanced Science, EarlyView.Mid‐infrared optoacoustic microscopy (MiROM) acquires lipid‐ and protein‐ associated vibrational contrast in intact fat tissue without dyes, preserving native tissue architecture. Through lateral and axial segmentation, MiROM tracks intrinsic intracellular changes during postnatal remodeling. A quantitative spatial analysis tool (Q‐SAT) maps white‐ and
Myeongseop Kim +7 more
wiley +1 more source
Characterization of a rare analphoid supernumerary marker chromosome in mosaic [PDF]
, 2015 publicado em: Chromosome Research. 2015;23(Suppl 1):67-8. doi:10.1007/s10577-015-9476-6Analphoid supernumerary marker chromosomes (SMCs) are a rare subclass of SMCs C-band-negative and devoid of alpha-satellite DNA.
Alves, C. +6 more
core
Methods for Scarless, Selection-Free Generation of Human Cells and Allele-Specific Functional Analysis of Disease-Associated SNPs and Variants of Uncertain Significance. [PDF]
, 2017 With the continued emergence of risk loci from Genome-Wide Association studies and variants of uncertain significance identified from patient sequencing, better methods are required to translate these human genetic findings into improvements in public ...
Carvajal-Carmona, Luis G +4 more
core +4 more sources
Unraveling the Molecular Mechanisms Underlying Spontaneous Multipolar Mitosis Through CIN‐seq
Advanced Science, EarlyView.Multipolar mitosis, a hallmark of chromosomal instability (CIN), drives tumor heterogeneity but is challenging to study in live cells. Using CIN‐seq, a single‐cell multiomics method, we profiled rare CIN events and identified mechanisms associated with viable multipolar mitosis, including PTEN attenuation, Rho GTPase‐driven cytokinesis failure, and ...
Pin‐Rui Su +10 more
wiley +1 more source
Correlating familial Alzheimer’s disease gene mutations with clinical phenotype [PDF]
, 2010 Alzheimer’s disease (AD) causes devastating cognitive impairment and an intense research effort is currently devoted to developing improved treatments for it.
Rossor, M.N., Ryan, N.S.
core +1 more source
A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development [PDF]
, 2011 Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling ...
AJ Notini +32 more
core +1 more source
Embedded CRISPRi Enhances Gene‐Silencing Efficiency in Drosophila
Advanced Science, EarlyView.Current CRISPR interference (CRISPRi) technology in Drosophila has limited efficiency. This study introduces the emCRISPRi platform, which significantly enhances transcriptional silencing efficacy by embedding inhibitory domains within the dCas9 architecture.
Pengchong Fu +7 more
wiley +1 more source
A survey of chromosome anomalies in Malta [PDF]
, 1989 433 individuals referred for chromosome analysis between 1983 and 1987 were included in the survey. Among individuals with dysmorphic features or congenital anomalies 42% of babies referred in the neonatal period and 12 to 30% of individuals in older age
Cuschieri, Alfred, Gauci, Sandra
core
Indian Journal of Paediatric Dermatology, 2023 Ratnakar Shukla, Chirag Desai
openaire +2 more sources
Advanced Science, EarlyView.We identify a Lepidoptera‐conserved testis‐specific arylalkylamine N‐acetyltransferase (LTNAT) that governs male moth fertility via a novel mechanism. LTNAT loss disrupts eupyrene sperm mitochondrial derivatives and impairs apyrene sperm motility, offering a safe molecular target for innovative pesticides and genetic pest control.
Hao Sun +5 more
wiley +1 more source