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Recessive in Medical News

New Diagnostic Tool Uncovered Gene Expression Patterns in Recessive Genetic Disorders

A new diagnostic method has been discovered by two scientists Vivian Cheung and Warren Ewens from the University of Pennsylvania to study //medical disorders that are recessively inherited. Gene expression patterns in carriers of genetic diseases would differ significantly and this new diagnost...

Developing gene therapy to fight blindness

...osa (RP). Their work is being funded in part by a $1.5 million grant from the Prince Salman Center for Disability Research in Saudi Arabia, where the recessive gene mutation that leads to the eye disease RP has been found in children from several families. The study is being led by Kang Zhang, MD, PhD, pr...

Australian team reveals world-first discovery in a 'floppy baby' syndrome

... for a mouse." Dr Nowak said the team was able to cure the mice with the recessive form of the genetic condition by replacing missing skeletal muscle actin a...vidual diseases which affect thousands of families worldwide. Children with recessive muscle actin diseases have no skeletal muscle actin because of mutations in...

Quest Diagnostics Discovers New Genetic Mutations Affecting Cystic Fibrosis Screening

...gene was discovered two decades ago this year, scientists have acquired significant insights into the genetics of CF, one of the most common autosomal recessive genetic disorders," said Charles (Buck) Strom, M.D., Ph.D., medical director of the genetic testing center of Quest Diagnostics Nichols Institute, the...

Scientists identify new congenital neutropenia syndrome and causative gene mutation

...researchers focused on five children of Turkish descent, four of whom were known to be related; the children did not have identified mutations but had recessive SCN (i.e., the children inherited mutations from both of their parents, who each carried one mutated gene but were themselves unaffected). The childre...

Bone Marrow-Derived Stem Cells May Offer Novel Therapeutic Option for Skin Disorder

...d blistering on touch, akin to third degree burns. While the disease is often lethal in the neonatal period, more severe forms of the disease, such as recessive dystrophic EB (referred to as RDEB), can lead to years of painful blistering and mutilating scarring. The condition is caused by significantly reduced...
Recessive in Medical Technology

Shire Reports Positive Results From First of Three Phase III Trials of velaglucerase alfa for Type 1 Gaucher Disease and Provides Important Updates on Interactions With FDA

...y expects to complete the NDA submission by the end of this quarter. Background on Gaucher disease Gaucher disease is an autosomal recessive disease and the most prevalent Lysosomal Storage Disorder (LSD), with an incidence of about 1 in 20,000 live births. Despite the fact that Gaucher Dis...

Shire Receives Fast Track Designation for velaglucerase alfa for Gaucher Disease

...exact human amino acid sequence and carries a human glycosylation pattern. Background on Gaucher disease Gaucher disease is an autosomal recessive disease and the most prevalent Lysosomal Storage Disorder (LSD), with an incidence of about 1 in 20,000 live births. Despite the fact that Gaucher Dis...

Shire has Filed a Treatment Protocol for Velaglucerase Alfa for Gaucher Disease

... velaglucerase alfa as an alternative choice for Gaucher Disease patients. Background on Gaucher Disease Gaucher Disease is an autosomal recessive disease and the most prevalent Lysosomal Storage Disorder (LSD), with an incidence of about 1 in 20,000 live births. Despite the fact that Gaucher Dis...

Shire Enhances its Orphan Drug Pipeline With the Acquisition of a New Clinical Candidate for Metachromatic Leukodystrophy

...Notes to editors Disease Background Metachromatic Leukodystrophy (MLD) is in the family of lysosomal storage diseases (LSD's). MLD is an autosomal recessive disease caused by a deficiency of the lysosomal enzyme arylsulfatase A (ASA) which results in an increased concentration of sulphatide in cells of the...

Genzyme Genetics Announces Launch of Carrier Testing and Prenatal Diagnosis for Spinal Muscular Atrophy

... Scientific Inc. About SMA SMA is an autosomal recessive disease which causes severe weakness in the muscle...on, SMA is the second most common lethal autosomal recessive disease in the United States. Other examples of autosomal recessive conditions include sickle cell anemia, and Tay-Sac...

Fovea Pharmaceuticals Receives Orphan Drug Designation from EC for RdCVF for the Treatment of Retinitis Pigmentosa

...atients are affected by this disorder. RP is a genetic disorder. The inheritance pattern is variable and can be either autosomal dominant, autosomal recessive or X-linked recessive. Most genes for RP cause only a small proportion of cases, exceptions being the rhodopsin gene, which leads to about 25% of domi...
Recessive in Medical Products

MEDPOR Inferior Orbital Rims

Features:... In patients with recessive orbital rims or in otherwise normal patients with prominent eyes, augmentation of the infraobrital rim with the Medpor Inferior Orbital Rim can improv...
Company:Porex Surgical Products Group
Recessive in Medical Definition

Atransferrinemia

... Genetics This condition is inherited in an autosomal recessive pattern, meaning two copies of the gene in each cell are altered. A ...m supported the notion that this disorder is transferred in an autosomal recessive pattern. [1] Atransferrinemia was reported in only eight patients in si...

Familial isolated vitamin e deficiency

... ICD - 9 xxx OMIM 277460 600415 DiseasesDB 30633 Familial Isolated Vitamin E Deficiency is a rare autosomal recessive neurodegenerative disease. Symptoms are much like those of Friedreich ataxia and is caused by mutations in the gene for a-tocopherol transfer protei...
Recessive in Medical Dictionary

Sex-linked recessive

Sex linkage is the phenotypic expression of an allele that is related to the chromosomal sex of the individual. This mode of inheritance is in contrast to the inheritance of traits on autosomal chromosomes, where both sexes have the same probability of expressing the... Sex - linked rece...

Autosomal recessive

(Redirected from Autosomal recessive ) Jump to: navigation, search ... these chromosomes are described as autosomal , and may be dominant or recessive . ... (Redirected from Autosomal recessive ) Jump to: navigation, search ... 5.3.2 Autosomal recessive disorders. ...

Xeroderma Pigmentosum

... Xeroderma pigmentosa, or XP, is an autosomal recessive genetic disorder of DNA repair in which the abi... Xeroderma pigmentosa, or XP, is an autosomal recessive genetic disorder of DNA repair in which the abi...Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder, where there ... Kraemer KH, Lee MM, Sco...

Wilson disease

... or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in... Overview: Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism. ... Cons.... Wilson disease is inherited in an autosomal recessive manner. ... Online Medical Dictionary and glo...

Usher Syndrome

... Usher syndrome is an inherited condition that causes a serious hearing loss that ... The Usher syndrome types are inherited as an autosomal recessive trait. ... ...

Tyrosinemia

... Tyrosinemia type I is inherited as an autosomal recessive disorder and causes ... tyrosinemia ( ′tirə...e gene defect for Tyrosinemia is an autosomal recessive genetic trait and is ... Important It is po...ble ... Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by ... Tyrosine...
Recessive in Biological News

Understanding how weeds are resistant to herbicides

...t plant with a sensitive plant. We look at its progeny to see if the resistance is inherited to understand the genetics if it's a dominant trait or a recessive trait. "Pyrosequencing is more like just throwing out a fishing net -- we know we're going to get continued resistance to other herbicides which ca...

Muscular dystrophy diagnosis delayed almost 2.5 years in boys

... DMD, the most common muscular dystrophy in children is a particularly devastating form of the disease that affects 1 in 3,500 boys. It is an X-linked recessive genetic disease with onset of symptoms in boys between 2 and 6 years old. It progresses rapidly, rendering patients wheelchair bound by 10 or 11 years...

Cystic fibrosis testing -- next steps

...ncreas, and intestines. Approximately 1 in 4000 children born in the United States is affected with cystic fibrosis. Cystic fibrosis is an autosomal recessive disease caused by mutations in the CFTR gene; cystic fibrosis patients must inherit a mutated gene from each parent. Genetic screening for cyst...

Diminuendo -- New mouse model for understanding cause of progressive hearing loss

...in which the male mice are administered N-ethyl-N-nitrosurea (ENU), thus influencing the DNA of their sperm. Successor generations develop dominant or recessive mutations. Using methods like these, Martin Hrab de Angelis and his colleagues in the German Mouse Clinic can thus identify mutants that develop disea...

UAB's Lisa Guay-Woodford earns top international nephrology prize

...ndation awarded UAB a grant to establish the first North American Autosomal recessive PKD Database - a comprehensive registry to collect and disseminate informat...ion of Genetic and Translational Medicine and the first director of the UAB recessive Polycystic Kidney Disease Core Center when it was established in 2005. In 2...

Researchers take first look at the genetic dynamics of inbreeding depression

...ance). When closely related individuals mate, their offspring are likely to end up with identical alleles for many traits. Many potentially harmful recessive alleles are no longer masked by dominant alleles, so more genetic disorders arise. Similarly, offspring that inherit two identical alleles for some tr...
Recessive in Biological Technology

BioMarin Licenses Technology From Leading Cystic Fibrosis Research Laboratory at the University of California, San Francisco

...lear clinical and regulatory path and will allow us to leverage our commercial infrastructure targeting specialists." Cystic fibrosis is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. With an incidence of approximately 1/3,500 births,...

Armed Forces Institute of Pathology Adopts Third Wave's Invader Screen

...ichy said. "We also think that the Air Force and Navy will find this to be a cost-saving alternative to their current programs." CF is an autosomal recessive disorder, which means a copy of a mutated gene must be inherited from each parent in order for a baby to be born with the disease. A large percentage ...

Protein Truncation Tests Using the DCode System

...d used to screen large coding regions of DNA to detect translation termination mutations. The gene responsible for the autosomal recessive disease ataxia-telangiectasia, ATM (ataxia-telangiectasia, mutated), 1 is a large transcript, approximately 10 kb, which lends itself ...

Single-Cell Complementation of Barley Mlo Mutants Using a PDS-1000/He Hepta System

...nt numbers of transformed plant cells for quantitative scoring of single-cell traits. Introduction Mutation induced recessive alleles (mlo) of the barley Mlo gene confer broad spectrum resistance against Blumeria graminis f. sp. hordei, the causal agent ...

Inoculation of Viral RNA and cDNA to Potato and Tobacco Plants Using the Helios Gene Gun

...ing their infectivity by electric discharge particle acceleration, Phytopathology, 81 , 980985 (1991) Hamalainen, J. H., et al., recessive and dominant genes interfere with the vascular transport of potato virus A in diploid potatoes, Mol. Plant Microbe Interact. (in...

Map and Link Human Genetic Disorders with SSLP Analysis

... only. We also used the CastAway system to analyze linkage studies of families with cartilage hair hypoplasia (CHH), an autosomal recessive skeletal dysplasia characterized by dwarfism, decreased immunity, and fine, sparse hair. 8 CHH was previously linked to chromos...
Recessive in Biological Products

Genetic Mapping of Disease Genes from Promega

Description:... Edited by I.H. Pawlowitzki, J.H. Edwards and E.A. Thompson (1997) • This volume covers: Linkage in dominant recessive and oligogenic disease, Model free (non-parametric) methods, Tools for gene mapping and applications....
Company:Promega

Rat Leptin Assay Kit from Immuno-Biological Laboratories, Inc.

Description:...ation does not reflect change of performance. This meaning is that measurement value is not affected by this change in comparison with former kit The recessive obesity mutation, ob, identified in 1950, results in profound obesity and type II diabetes as part of a syndrome that resembles morbid obesity in huma...
Company:Immuno-Biological Laboratories, Inc.
Recessive in Biological Definition

Albinism

...herited condition arising from the combination of recessive genes passed from both parents of an individual. ...the condition, but will become a carrier of the recessive gene . Where two carriers of the recessive gene have a child together, that child will have a...

Allele

...ous flower (with one red and one white allele), the petals will be red. The recessive allele will only be expressed in a recessive homozygote. However, there are exceptions to the way heterozygotes expres...

Gene

...s results in terms of inherited characteristics. Mendel was also the first to hypothesize independent assortment, the distinction between dominant and recessive traits, the distinction between a heterozygote and homozygote, and the difference between what would later be described as genotype and phenotype. Me...

Hardy-Weinberg principle

... q for the heterogametic sex but p^2, 2pq and q^2 for the homogametic sex. For example in humans red-green colourblindness is caused by an X-linked recessive allele. The frequency in males is about 1 in 12, (or 0.083) whereas it affects about 1 in 250 women (0.004). If a population is brought together wi...

Heterozygote

... copy of the gene; this would be referred to as a recessive disease. To describe how a trait inherits ( Ma...dominant trait is indicated with a capital and the recessive with a lower case character. The colour of Mendel'...dominant homozygote pink flower and pp for the recessive homozygote white flower. When these are crossed, ...

Human

...x chromosomes XX and males have XY. The X chromosome is longer and carries many genes not on the Y chromosome, which means that defects of X-linked recessive genes affect men more often than women. For example, genes that control the clotting of blood reside on the X chromosome. Women have a blood-clotti...
Recessive in Biological Dictionary

Recessive

In classical genetics, dominance describes a relationship between different forms (alleles) of a gene at a particular physical location (locus) on a chromosome. Typical plants and animals have two sets of chromosomes, one set inherited from each parent, and are... In genetics, dominance desc...

Xeroderma pigmentosum

... Xeroderma pigmentosa, or XP, is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage cause...o multiple basal cell... Xeroderma pigmentosa, or XP, is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage cause...

True-breeding

...ts, true breeding occurs when plants produce only ... True - breeding individuals are homozygous, alternate alleles are identical, ... The recessive trait's phenotype only appears in true - breeding (homozygous) individuals ... That is only true if mom is true breeding for all the tra...

Trait

... ... Retrieved from "http://en.wiktionary.org /wiki/ trait " ... Information about trait in the free online English dictionary and encyclopedia. recessive trait ... compulsiveness, compulsivity - the trait of acting compulsively ... An review of some of the medical problems seen in people with si...

Thalassemia

... Thalassemia is an inherited autosomal recessive blood disease. In thalassemia , the genetic defect results in reduced rate of synthesis of one of the globin chains that make up hemoglobin. Reduced...

Syngamy

... ... ... genes and (2) offspring result from syngamy or the fusion of two different gametes. ... fit than themselves when syngamy results in recessive homozygotes. ... ... anatomy and sex lives (they don't have syngamy or meiosis or even true mitosis) ... Without water, algal syngamy is i...
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