Results 71 to 80 of about 305,611 (291)
Genotype-phenotype correlations in tuberous sclerosis [PDF]
Journal of Medical Genetics, 2000 Editor—Van Slegtenhorst et al 1 reported a mutational analysis of 225 patients with tuberous sclerosis (TSC) and concluded that there was no evidence for genotype-phenotype correlation. At virtually the same time, Jones et al 2 from Cardiff published supportive evidence for genotype-phenotypic correlation in their comprehensive mutational analysis of ...
P J, De Vries, P F, Bolton
openaire +2 more sources
Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma
Molecular Oncology, EarlyView.The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic +5 more
wiley +1 more source
Molecular Oncology, EarlyView.In the present work, we have identified a transcriptional signature based on the differential expression of six genes (BCL2&MAST4, HSH2D&LAT2, METRN&PITPNM2) that would facilitate the early detection of T‐cell acute lymphoblastic leukemia (T‐ALL) patients prone to a poor treatment response and could be implemented at diagnosis, along with other risk ...
Antonio Lahera +11 more
wiley +1 more source
Genomic imbalances defining novel intellectual disability associated loci
Orphanet Journal of Rare Diseases, 2019 Background High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology.
Fátima Lopes +41 more
doaj +1 more source
Variability in disease phenotypes within a single PRNP genotype suggests the existence of multiple natural sheep scarpie strains within Europe [PDF]
, 2010 Variability of pathological phenotypes within classical sheep scrapie cases has been reported for some time, but in many instances it has been attributed to differences in the PRNP genotype of the host.
Acín, C. +12 more
core +2 more sources
Molecular Oncology, EarlyView.Beyond its role in immune evasion, this study identified that CD47 drives tumor‐intrinsic signaling in non‐small cell lung cancer (NSCLC). Transcriptomic profiling and functional studies revealed that CD47 regulates cell adhesion, migration, and metastasis through an ERK–EMT signaling axis.
Asa P.Y. Lau +8 more
wiley +1 more source
Genotype-phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-like Disease
Bezmiâlem Science, 2019 Objective:Among the hypomyelinating diseases of childhood, Pelizaeus Merzbacher disease (PMD) is caused by X-linked proteolipid protein (PLP) gene mutations, whereas patients without mutations of PLP gene-called Pelizaues Merzbacher-like disease (PMLD ...
Elif GÖKÇAL +4 more
doaj +1 more source
Neurological Research and Practice, 2019 Background Hereditary transthyretin amyloidosis (ATTR amyloidosis) is a rare, genetically heterogenous, and clinically variable autosomal dominant disease that severely reduces life expectancy.
Andreas Thimm +14 more
doaj +1 more source
A New Advanced Backcross Tomato Population Enables High Resolution Leaf QTL Mapping and Gene Identification. [PDF]
, 2016 Quantitative Trait Loci (QTL) mapping is a powerful technique for dissecting the genetic basis of traits and species differences. Established tomato mapping populations between domesticated tomato (Solanum lycopersicum) and its more distant interfertile ...
Chitwood, Daniel H +10 more
core +3 more sources
Molecular Oncology, EarlyView.Here, we demonstrate that HS1BP3 interacts with Cortactin through a proline‐rich region (PRR3.1) and show that this interaction, and HS1BP3 itself, promote cancer cell proliferation and invasion. Inhibition of this interaction leads to build‐up of TKS5 in multivesicular endosomes and altered secretion of CD63 and CD9, providing an explanation for the ...
Arja Arnesen Løchen +9 more
wiley +1 more source