Sentences with phrase «characterized by mutations»

«Kleefstra syndrome is characterized by mutations in EHMT1, and although these patients had similar clinical symptoms to Kleefstra syndrome, they didn't have the mutation.»

Recent studies have found that ALL cases are often characterized by mutations in a certain gene pathway, called JAK3 / STAT5.

The study published this month in PLoS Genetics and led by Jamie Kramer, PhD, assistant professor at Western's Schulich School of Medicine & Dentistry uncovers a new syndrome characterized by a mutation in a gene called KMT2C.

Not exact matches

There is much in it that the evangelical should take seriously and yet it is characterized by what seems a perverse refusal to accept the authoritative Biblical witness without first subjecting it to existentialist and other historically conditioned mutations.

«Just as normal cells with the same genome differentiate into many different cell types, a single tumor characterized by specific genetic mutations can contain many different types of cells — stem - like and more differentiated cells — with the difference being rooted in their epigenetic information.

The molecular mechanisms involved in the development of cancer have been uncovered by extensive research over the past 30 years, culminating in The Cancer Genome Atlas, a National Institutes of Health project that identified and characterized many genetic mutations that fuel cancer.

Importantly, patients with mutations in a single copy of NKX2.1 often have Brain - Lung - Thyroid Syndrome, which is characterized by respiratory distress after birth and accompanied by decreased surfactant protein expression.

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.

Rather than simply identifying a cancer by location or tissue type, researchers now use advanced molecular profiling tests to characterize tumors, the proteins they express and the novel mutations they develop — known as neoantigens.

This mutation replicates the genetics of Coffin - Siris syndrome, a disorder that some patients with defects in the ARID1B gene have that is characterized by speech and social development problems, intellectual disability, and delayed physical growth.

Columbia University Medical Center (CUMC) scientists have identified new genetic mutations that can cause pulmonary arterial hypertension (PAH), a rare fatal disease characterized by high blood pressure in the lungs.

But scientists from the Julius - Maximilians - University of Wuerzburg in Germany have zeroed in on one mutation of a gene on chromosome 22 that appears to play an important role in catatonic schizophreniaa particularly severe form of the disease characterized by acute psychotic breaks and disturbed body movements.

A year earlier, researchers at the University of Montreal identified a Shank3 mutation in patients suffering from schizophrenia, which is characterized by hallucinations, cognitive impairment, and abnormal social behavior.

Limiting clinical investigations to women who are at risk of transmitting a serious mtDNA disease, where the mutation's pathogenicity is undisputed, and the clinical presentation of the disease is predicted to be severe, as characterized by early mortality or substantial impairment of basic functions; and

Whereas the accumulation of age - dependent mutations that were deleterious to survival was delayed, the ancestral state already was characterized by early female loss of fertility (menopause).

SMA is characterized by hypotonia and muscle weakness, as spinal motor neurons are lost, and is caused by mutations in the SMN gene.

By characterizing mutations from secondary AML tumors in the MDS precursors for the same patient, the authors reconstructed the clonal architecture of the disease from early to advanced stages.

In all 7 cases, the results suggest a linear model of clonal evolution, in which progression from MDS to sAML was characterized by persistence of a single founder clone (defined by ~ 200 - 700 mutations) and the outgrowth of at least one new subclone which contained dozens or hundreds of additional mutations.

Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence.

For example, mutants may be characterized by comparing their transcript profiles to those obtained in other experiments querying the effects on gene expression of many experimental factors including treatments, mutations and pathogen infections.

Mutations in fms related tyrosine kinase 3 (FLT3) gene are the most common mutations found in acute myeloid leukemia (AML) and are characterized by an aggressive phenotype with a high prevalence ofMutations in fms related tyrosine kinase 3 (FLT3) gene are the most common mutations found in acute myeloid leukemia (AML) and are characterized by an aggressive phenotype with a high prevalence ofmutations found in acute myeloid leukemia (AML) and are characterized by an aggressive phenotype with a high prevalence of relapse.

Semenza's team uncovered the mitochondrial mechanism in a study of Von Hippel - Lindau (VHL) syndrome, caused by a single gene mutation and characterized by the tendency to develop tumors in many parts of the body, including the kidney, brain and adrenal glands.

These mutations cause a severe developmental disorder characterized by growth retardation, microcephaly and skeletal deformities.

AML is a heterogeneous disease characterized by recurrent genetic alterations, including amplifications, deletions, rearrangements, and point mutations.

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

Using genomics approaches, Dr. Nobrega has identified the gene IRX3 as the strongest association to polygenic obesity in humans, and characterized the mechanisms by which mutations altering the expression of a gene called TCF7L2 also represent the strongest genetic link to type 2 diabetes in humans.

In the McKusick - Nathans Epigenetics and Chromatin Clinic, she studies how a mutation in the EZH2 gene leads to Weaver syndrome, a genetic disorder characterized by rapid growth and intellectual disability.

She examines how a mutation in the EZH2, a component of the epigenetic machinery, leads to Weaver syndrome, a genetic disorder characterized by excessive skeletal and organ growth, as well as intellectual disability.

Background: Familial combined hypolipidemia, a Mendelian condition characterized by substantial reductions in all 3 major lipid fractions, is caused by mutations that inactivate the gene angiopoietin - like 3 (ANGPTL3).

Using these molecular tools, it has become evident that leukemias, lymphomas and hematologic diseases are characterized by a remarkable genetic heterogeneity, with individual patients presenting with a distinct and almost unique combination of chromosome changes and somatically acquired gene mutations.

Mutations in the human NBEAL2 gene cause gray platelet syndrome (GPS), a bleeding diathesis characterized by a lack of α granules in platelets.

By characterizing the role of gene mutations and copy number variations in a number of complement associated disorders, including kidney diseases, such as HUS (Hemolytic Uremic Syndrome), DDD (Dense Deposit Disease) or AMD (Age Related Macular Degeneration) the group has identified new disease subtypes of this severe kidney diseases.

On Monday, FDA has greenlighted Iressa (gefitinib) as treatment for patients with metastatic NSCLC characterized by certain EGFR gene mutations.

Finally, an inactivating mutation of LARP7 has been linked to a novel form of familial Primordial Dwarfism characterized by facial dysmorphism and intellectual disability (Alazami et al., 2012).

In young affected dogs retinal structure, rhodopsin expression and photoreceptor activation is normal; disease progression is characterized by regions of initial focal photoreceptor degeneration surrounded by areas of structurally normal retina, which interestingly is very similar to the phenotypes of humans with RHO mutations [24].