How To Use Autosomal In A Sentence
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HAE is a genetic disorder affecting approximately 6,000 to 10,000 Americans and is caused by a deficiency of C1-INH, which is inherited in an autosomal dominant manner.
Undefined
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Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance. It is caused by the mutation of the tumor suppressor gene NF1, which encodes neurofibromin.
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The veterinary ophthalmology researchers said the disorder -- called congenital achromatopsia or rod monochromacy -- is a rare autosomal recessive genetic disorder with an estimated prevalence in human beings of about 1 in 50,000.
The Money Times
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Our next goal is to find out through linkage analysis whether or not the aberrant phenotype is caused by a mutated sex-linked or autosomal gene and, if autosomal, on which autosome the defective gene is located.
OpenWetWare - Recent changes [en]
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Quebec platelet disorder is an autosomal dominant bleeding condition associated with a gain-of-function defect in fibrinolysis resulting from a 78 kb tandem duplication on chromosome 10q24 that includes
MedPageToday.com - medical news plus CME for physicians
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This disorder is inherited as an autosomal dominant trait.
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Genetic counseling. Cystinosis is inherited in an autosomal recessive manner.
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The diagnosis: A potentially fatal genetic disorder called autosomal recessive polycystic kidney disease.
The Toughest Test
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When a person is carrying a mutation in an autosomal dominant gene, each egg or sperm cell has a 50 percent chance of containing the nonfunctioning gene copy and a 50 percent chance of containing the normal copy of the gene.
Genetics and Alagille Syndrome
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Since postaxial polydactyly is an autosomal dominant trait, we may hypothesize that the two people who had served as models for Raphael were relatives, probably father and son.
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Cerebrotendinous Xanthomatosis (CTX) is a rare, autosomal recessive metabolic disorder caused by mutations in a gene called CYP27A1, which produces an enzyme called sterol 27-hydroxylase.
MMD Newswire: Press Release News Wire
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Clouston syndrome is an hidrotic form of ectodermal dysplasia, inherited as an autosomal dominant trait with high penetrance.
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Both inherited (autosomal dominant and recessive with variable levels of penetrance) and sporadic forms of uncombable hair syndrome have been described, both being characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles.
Boing Boing
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For autosomal transgenes, both males and females were used for classification.
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Familial adenomatous polyposis is an autosomal dominant syndrome in which hundreds to more than a thousand polyps develop in the colon and other parts of the gastrointestinal tract, beginning early in life.
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Tumor suppressor genes are located on autosomal chromosomes.
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In 1956, Rolf Kostmann, a Swedish pediatrician, described an autosomal recessive disorder that he called infantile genetic agranulocytosis - which is now called severe congenital neutropenia.
Medlogs - Recent stories
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HHT is an autosomal dominant disordercharacterized by vascular dysplasia.
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The latest edition, by contrast, offered the gouty reader only what amounted to “condensed shop manual discourse: ‘The elevation in uric acid appears to be transmitted by an autosomal gene.’”
A Taxonomy of Knowledge
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Neurofibromatosis is one of autosomal - dominant neurogenetic diseases with relatively low incidence.
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I assume that each new diploid individual results from the random fusion of a male and a female gamete and that its gender is independent of its autosomal genes.
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Examples of autosomal dominant single gene disorders include: Marfan syndrome, achondroplasia, neurofibromatosis, and retinitis pigmentosa.
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Familial nonsyndromic craniosynostosis, which affects 2 to 6 percent of infants with sagittal synostosis and 8 to 14 percent of infants with coronal synostosis, is transmitted as an autosomal dominant disorder.
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Failure to ubiquitinate c-Met leads to hyperactivation of mTOR signaling in a mouse model of autosomal dominant polycystic kidney disease
EurekAlert! - Breaking News
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The disorders that mutations in these types of genes cause are called autosomal recessive.
Genetics and Alagille Syndrome
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In this way the autosomal genetic information of different lineages becomes scrambled over time, and direct lineal associations become difficult to decipher.
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This was explained by the action of rare alleles of autosomal modifiers that can influence or override the sex chromosome genes.
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Veterinarians have reported the autosomal dominant disease known as hyperkalemic periodic paralysis (HYPP) in Quarter Horse and Quarter Horse-related breeds.
TheHorse.com News
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Klinefelter syndrome is still the most common chromosomal disease, balanced translocation accounts for largest proportion of autosomal abnormality.
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Examples of autosomal dominant single gene disorders include: Marfan syndrome, achondroplasia, neurofibromatosis, and retinitis pigmentosa.
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Previous work has calculated the covariance expected under autosomal inheritance in diploids and haploids.
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Failure to ubiquitinate c-Met leads to hyperactivation of mTOR signaling in a mouse model of autosomal dominant polycystic kidney disease.
New target in polycystic kidney disease: Experimental drug decreases size and number of cysts in animal model
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This is known as autosomal dominant transmission, so photic sneezing now has the irresistible scientific name of “autosomal-dominant compelling helio-opthalmic outburst,” the acronym for which is, of course, ACHOO.
Book review: Wicked by Gregory Maguire
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It can test for shared strands of autosomal DNA – meaning any line of ancestry, not just pure matrilineal or patrilineal lines.
Lecture in Dublin on Tracing Your Irish Ancestors via DNA « Cork Genealogist
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Herediatery nonpopsis colorectal cancer(HNPCC) is an autosomal dominant inheritance syndrome , its penetrance is as high as 70 - 80% , and occupy about 5-15% of the colorectal cancer.
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Laparoscopic renal denervation and nephropexy for autosomal dominant polycystic kidney disease related pain in adolescents.
Publications of the Urology Division
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This means that in each pregnancy, the fetus has a 50 percent chance of inheriting the autosomal dominant disorder.
Genetics and Alagille Syndrome
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Multiple osteochondromas can occur either spontaneously an autosomal dominant disorder known as hereditary multiple exostoses.
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The screen that generated these new sc alleles also produced autosomal duplications.
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After germline transformation, two autosomal transgenic lines were recovered.
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Conclusion: EXT is an autosomal dominant disorder and the penetrance is 97 % in this report.
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It can test for shared strands of autosomal DNA – meaning any line of ancestry, not just pure matrilineal or patrilineal lines.
Lecture in Dublin on Tracing Your Irish Ancestors via DNA « Cork Genealogist
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Conclusion The association of gap junction protein gene with this autosomal dominant congenital pulverulent cataract was preliminary excluded.
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Both inherited (autosomal dominant and recessive with variable levels of penetrance) and sporadic forms of uncombable hair syndrome have been described, both being characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles.
Boing Boing
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Most are inherited as autosomal dominants, and death can be prevented by implantable cardioverter defibrillators.
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The next two sections illustrate how to do this by carrying out the calculations for autosomal genes in dioecious haploids and for autosomal, sex-linked, and cytoplasmic genes in diploids.
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Neurofibromatosis is an autosomal dominant genetic disease, which also named as Von Recklinghausen disease before.
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The mutated gene "dominates" over the normally functioning gene, so it is called autosomal dominant.
Genetics and Alagille Syndrome
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PKU is described by scientists as an autosomal recessive genetic disease that is characterized by a deficiency in an enzyme called phenylalanine hydroxylase (PAH).
Medlogs - Recent stories
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Another significant aspect of our study is the experimental determination of haplotypes for an autosomal gene.
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Autosomal bivalents can be arranged in order of size, but unambiguous identification of individual bivalents is not possible.
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If a condition is autosomal dominant, a person who carries one copy of the gene containing a mutation will usually manifest some signs of that condition.
Genetics and Alagille Syndrome
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For most people, the genome consists of one pair of sex chromosomes (XX in women and XY in men) and twenty-two pairs of chromosomes called autosomal, plus mitochondrial DNA, which is something of a separate story.
'Blood Matters'
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In the Belgian tervuren and sheepdog, epilepsy is highly heritable with a polygenic mode of inheritance, though apparently influenced by a single autosomal recessive locus of large effect.
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Autosomal genes often showed deranged regulatory levels, indicating they were in pathways perturbed by X chromosomal changes.
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autosomal gene
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Throughout the article only autosomal chromosome segments are considered.
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In this case cancer susceptibility is inherited in autosomal dominant manner.
Archive 2004-11-01
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A classic example of an autosomal recessive inborn error of metabolism is phenylketonuria.
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Objective To elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris ( IV ) .
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Five of six genes, regardless of X or autosomal location, are increased in expression to a slight degree in mutant females.
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Alagille syndrome is an autosomal dominant disorder, which means someone who carries the Jagged1 gene mutation has a 50 percent chance of passing on that mutation to their child.
What Causes Alagille Syndrome?
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The sex chromosomes are placed to the right of the smallest autosomal chromosomes.
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Objective To map the virulence gene for a family with coronary autosomal dominant congenital cataracts ( ADCC ).
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Congenital microphthalmia is a developmental defect of ocular disorder with autosomal dominant, autosomal recessive, and X-linked recessive modes of inheritance.
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Thornton PS, Satin-Smith MS, Herold K, Glaser B, Chiu KC, Nestorowicz A, et al. Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. [see comments].
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