Unravelling the genetics of inherited retinal dystrophies: Past, present and future
The identification of the genes underlying monogenic diseases has been of interest to
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …
A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function
DM Anderson, E Maraskovsky, WL Billingsley… - Nature, 1997 - nature.com
Dendritic cells are rare haematopoietic cells that reside in a number of organs and tissues.
By capturing, processing and presenting antigens to T cells, dendritic cells are essential for …
By capturing, processing and presenting antigens to T cells, dendritic cells are essential for …
Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome
DG Wang, JB Fan, CJ Siao, A Berno, P Young… - Science, 1998 - science.org
Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the
human genome, and they provide powerful tools for a variety of medical genetic studies. In a …
human genome, and they provide powerful tools for a variety of medical genetic studies. In a …
A deletion in the bovine myostatin gene causes the double–muscled phenotype in cattle
L Grobet, LJ Royo Martin, D Poncelet, D Pirottin… - Nature …, 1997 - nature.com
An exceptional muscle development commonly referred to as 'double-muscled'(Fig. 1) has
been seen in several cattle breeds and has attracted considerable attention from beef …
been seen in several cattle breeds and has attracted considerable attention from beef …
Genetic Restriction of HIV-1 Infection and Progression to AIDS by a Deletion Allele of the CKR5 Structural Gene
M Dean, M Carrington, C Winkler, GA Huttley… - Science, 1996 - science.org
The chemokine receptor 5 (CKR5) protein serves as a secondary receptor on CD4+ T
lymphocytes for certain strains of human immunodeficiency virus-type 1 (HIV-1). The CKR5 …
lymphocytes for certain strains of human immunodeficiency virus-type 1 (HIV-1). The CKR5 …
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
JW Foster, MA Dominguez-Steglich, S Guioli, C Kwok… - Nature, 1994 - nature.com
Induction of testis development in mammals requires the presence of the Y-chromosome
gene SPY. This gene must exert its effect by interacting with other genes in the sex …
gene SPY. This gene must exert its effect by interacting with other genes in the sex …
[HTML][HTML] TAZ: a novel transcriptional co‐activator regulated by interactions with 14‐3‐3 and PDZ domain proteins
F Kanai, PA Marignani, D Sarbassova, R Yagi… - The EMBO …, 2000 - embopress.org
The highly conserved and ubiquitously expressed 14‐3‐3 proteins regulate differentiation,
cell cycle progression and apoptosis by binding intracellular phosphoproteins involved in …
cell cycle progression and apoptosis by binding intracellular phosphoproteins involved in …
Identification of a gene (GPR30) with homology to the G-protein-coupled receptor superfamily associated with estrogen receptor expression in breast cancer
Using the technique of differential cDNA library screening, a cDNA clone was isolated from
an estrogen receptor (ER)-positive breast carcinoma cell line (MCF7) cDNA library based …
an estrogen receptor (ER)-positive breast carcinoma cell line (MCF7) cDNA library based …
A comprehensive genetic map of the human genome based on 5,264 microsatellites
C Dib, S Fauré, C Fizames, D Samson, N Drouot… - Nature, 1996 - nature.com
THE great increase in successful linkage studies in a number of higher eukaryotes during
recent years has essentially resulted from major improvements in reference genetic linkage …
recent years has essentially resulted from major improvements in reference genetic linkage …