Not exact matches
Leber congenital amaurosis is caused by a
gene defect doesn't
lead the retina to make a
key protein.
«Essentially, we are using the human placenta as a model to identify
genes that play a
key role in invasion in both the placenta and cancer,» wrote Chi Sutherland, a Ph.D. candidate
leading the project, in an email.
Changes in
key genes clearly define four previously unknown conditions within the umbrella diagnosis of schizophrenia, according to a study
led by researchers from NYU Langone Medical Center published online April 28 in EBioMedicine, a Lancet journal.
«When most people think about cancer genetics, they think about single
key mutations that foster tumor formation — very specific things like the BRCA
genes,» said Joe R. Delaney, PhD, a fellow in the Clinical Translation program at UC San Diego Moores Cancer Center and
lead author of the paper published February 15 in Nature Communications.
Key proteins, produced and regulated by these important
genes, activated a cascade of diverse, tissue - specific signals that
led to regenerative organ growth.
The researchers found that mutations to a
gene called ATF6, a
key regulator of the unfolded protein response, can
lead to achromatopsia, a hereditary visual disorder characterized by color blindness, decreased vision, light sensitivity, and uncontrolled eye movement in children.
During the 1990s, a team
led by Jeffery Taubenberger at the Armed Forces Institute of Pathology in Washington, D.C., sequenced
key gene fragments of the 1918 flu strain, recovered from frozen victims found in the Alaskan permafrost and in archived autopsy material.
The Jan. 12 issue of the journal Science provides an in - depth and timely review of the
key developments that have
led to several successful
gene therapy treatments for patients with serious medical conditions.
Stice's group has shown that viewing the cake above as too tempting or not tempting enough may
lead you down the path to obesity... but your
genes are
key.
This
led Lippman's team to propose that the ancient function of the HPAT
genes is to control tip growth, which, Lippman says, is likely related to
key proteins that are critical for forming cell walls.
That genetic map
led to
key insights, such as the link between glioblastoma, the deadliest type of brain tumor, and a
gene called BEX1.
deCODE has identified
key variations in the sequence of the genome conferring increased risk of major public health challenges from cardiovascular disease to cancer, and employs its
gene discovery engine to develop DNA - based tests to assess individual risk of common diseases; to license its tests and intellectual property to partners; and to provide comprehensive,
leading - edge contract services to companies and research institutions around the globe.
«This work reveals how a single mutation in a
key cardiac
gene can
lead to at least two forms of disease.»
However, sex differences in regulatory mechanisms of
genes could be the
key element in explaining sexual dimorphism,
leading to variations in phenotype through
gene - environment interactions (194).
Aug 8, 2008 Two New Predisposition
Genes For Breast, Thyroid And Kidney Cancers Could
Lead to More Accurate Diagnosis and Earlier Detection of These Cancers Charis Eng, MD, PhD, Sondra J and Stephen R Hardis Endowed Chair of Cancer Genomic Medicine and Chair, GMI, and her team published in the Aug 8, 2008 issue of the American Journal of Human Genetics that germline mutations in SDHB and SDHD, which play
key roles in the mitochondria (the cell's power houses), predispose to Cowden and Cowden - like syndromes.
HIBM is caused by mutations in the
gene encoding the
key enzyme in sialic acid synthesis, UDP - GlcNAc 2 - epimerase / ManNAc kinase, which in turn
leads to sialic acid deficiency.
This study generated more than 5 million datapoints, information that
led to the identification of
key genes indicative of responsiveness to glucocorticoids.
While not a direct cause of cancer, the researchers suspected that over time this could
lead to
key anti-tumour
genes being damaged that would normally prevent cancer from developing.
They cause an alteration in
gene expression,
leading to a suppression of
key mitochondrial enzymes, like carnitine palmitoyltransferase — which finally solves the mystery of why those eating vegetarian have a 60 % higher expression of that fat - burning enzyme.