Sentences with phrase «by mutations in»

AGTC's lead product candidates focus on rare diseases of the eye, caused by mutations in single genes, that significantly affect visual function and currently lack effective medical treatments.

EAD accounts for 10 % to 15 % of all human cases of CMSs and is always caused by mutations in COLQ [5].

However, because there are multiple types of PRA caused by mutations in other genes, a normal result in PRCD does not exclude PRA in a pedigree.

The early onset forms of PRA described above are all caused by mutations in autosomal genes.

These mutations establish CMR as a novel animal model for Best macular dystrophy (BMD) in humans, an autosomal dominant, childhood retinal disease also caused by mutations in the Bestrophin gene [76, 77].

BOSTON (Sept. 16, 2013)-- Retinitis pigmentosa (RP) is a genetic disease that causes progressive loss of vision and is caused by mutations in more than 50 genes.

In the 1970s, five scientists — Harold Varmus, Michael Bishop, Raymond Erikson, Robert Gallo, and Hidesaburo Hanafusa — found evidence to suggest that cancer is caused by mutations in genes that are part of our own DNA — oncogenes.

Inherited loss of hearing can be caused by mutations in any of over a hundred of genes known to affect hearing, a...

Human mutations affecting this subgroup of ADAMTS / ADAMTSL proteins phenocopy all or several aspects of genetic disorders caused by mutations in the fibrillin - 1 gene itself, suggesting a functional relationship.

They are driven by mutations in the hemopoietic stem cell, most notably JAK2 (V617F), CALR, and MPL.

AML is a disease state that was initiated, and driven, by mutations in her genome.

Early onset autosomal recessive parkinsonism is caused by mutations in the parkin, PINK1, and DJ - 1 genes (Kitada et al., 1998; Bonifati et al., 2003; Valente et al., 2004).

LA JOLLA, CA — Researchers at the Salk Institute for Biological Studies have developed a way to use patients» own cells to potentially cure sickle cell disease and many other disorders caused by mutations in a gene that helps produce blood hemoglobin.

Treacher Collins syndrome is an autosomal dominant craniofacial malformation mainly caused by mutations in the TCOF1 gene.

Vivienne has spinal muscular atrophy (SMA), a condition caused by mutations in the gene SMN1.

A-T and SCAN1 are caused by mutations in different enzymes involved in DNA repair.

In addition to 8 HapMap samples, they included four samples from unrelated individuals with Freeman — Sheldon syndrome (FSS), an autosomal - dominant disorder caused by mutations in MYH3.

Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7

Familial cancer, also known as hereditary cancer is a condition caused by mutations in specific genes that is passed from parent to child.

The most common genetic killer of infants, a disease known as spinal muscular atrophy, is caused by mutations in a single gene.

In the article, the researchers show that the white coat color in dogs is caused by mutations in the MITF gene that is crucial for normal development of pigment cells.

This hard - to - treat cancer is often caused by mutations in the BRCA1 protein.

β - thalassemia is an inherited disorder caused by mutations in the β - globin chain of haemoglobin that lead to... Continue reading Animal research: At the forefront of modern medicine

About a third of all human cancers are driven by mutations in RAS genes.

The study focused on embryonal rhabdomyosarcoma caused by mutations in the Sonic Hedgehog signaling pathway and used a mouse model developed in Hatley's laboratory.

That methylation pathway can be triggered by mutations in genes called TET2, DNMT3A, IDH1 or IDH2.

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.

Gene editing has emerged as a promising strategy to treat diseases like β - thalassemia and sickle cell disease which are both caused by mutations in the gene for β - globin (HBB).

The chromosome 7 - linked form of congenital long QT syndrome (LQT2) is caused by mutations in the human ether - a-go-go-related gene (HERG) that encodes the rapidly activating delayed rectifier

The tool, in particular, could be ideal for both these diseases, scientists think, because each is caused by mutations in a single gene that makes hemoglobin, the protein in the red blood cells that transports oxygen throughout the body.

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.

And some metabolic mutations, which themselves can promote cancer - causing changes in the cell, will be more successful if they're followed by mutations in tyrosine kinases or transcription factors that stimulate cell growth.

SMA is caused by mutations in a gene called SMN1.

Thus, this rational transcript engineering approach may represent a unique therapeutic opportunity for a wide range of diseases caused by mutations in the mitochondrial genome for which current effective therapies are lacking (2)

About Spinal Muscular Atrophy Spinal Muscular Atrophy is a genetic, motor neuron disease caused by mutations in a single gene, SMN1.

«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.»

Charlie's MDDS is caused by mutations in the RRM2B gene.

The same syndrome can also be caused by mutations in other genes, including the TK2 gene.

The condition is caused by mutations in two genes: EXT1 and EXT2.

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

Hermansky - Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light - ear gene.

Non-syndromic vestibular disorder with otoconial agenesis in tilted / mergulhador mice caused by mutations in otopetrin 1.

Many women are acutely aware of the stark dangers posed by mutations in the BRCA1 and BRCA2 genes — the kind that prompted actress Angelina Jolie to have her breasts and ovaries removed preemptively.

TDP - 43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP / p97.

In motor neuron disease, it was caused by mutations in the FUS protein itself which meant it was no longer able to change form.

Our work has implications for two human genetic diseases, which are caused by mutations in the ATP7B and ATP7A genes and lead to copper overload in the liver (Wilson Disease), due to the failure to excrete copper into the bile, and copper deficiency in many organs (Menkes Disease), due to the failure to deliver intestinal copper to the blood.

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

In 2005, Cagan's team created a general fly model of a human thyroid tumor caused by mutations in the Ret receptor tyrosine kinase gene, then screened a panel of drugs including a kinase inhibitor called vandetanib that suppressed the tumor (Cancer Res, 65:3538 - 41, 2005).

Retinitis pigmentosa (RP) is a genetic disease that causes progressive loss of vision and is caused by mutations in more than 50 genes.

Around 50 % of cases of familial recessive Parkinson's disease are caused by mutations in the PARKIN gene, which encodes a protein that belongs to the RBR ubiquitin ligase enzyme family.