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Educational Resources
A nonsense mutation is the substitution of a single base pair that leads to the appearance of a stop codon where previously there was a codon specifying an amino acid.
… nonsense mutation … a nonsense mutation is the substitution of a … acid. … nonsense mutation , missense mutation , base pair, genetic code, genetic mutation … a nonsense mutation is the substitution of …
Educational Resources
A frameshift mutation is a type of mutation involving the insertion or deletion of a nucleotide in which the number of deleted base pairs is not divisible by three.
… frameshift mutation … a frameshift mutation is a type of mutation involving the insertion or … number of deleted base pairs is not divisible by three. … genetic mutation , base pairs, dna sequence … a frameshift …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… is an inherited intellectual disability caused by a mutation in the fmr1 gene. … fragile x syndrome is the most … this may be the only sign of the problem. a specific genetic test (polymerase chain reaction [pcr]) can now be … disability caused by a mutation in the fmr1 gene. … genetic disorders …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… rapidly progressive form of muscular dystrophy caused by a mutation in the dmd gene. … dmd is a rapidly progressive form … boys are classified as having becker muscular dystrophy. genetic testing (looking at the body's genetic instructions) on a blood sample for changes in the …
News Release
A new study by scientists at NHGRI, suggests that iPSCs do not develop more mutations than cells that are duplicated by subcloning.
… that these cells are prone to increased numbers of genetic mutations . a new study by scientists at the national … were reprogrammed and in cells that were subcloned. m ost genetic variants detected in the ipscs and subclones were rare genetic variants inherited from the parent skin cells. this …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… to make the enzymes and the co-factors for metabolism. a mutation causes a gene to not function at all or not to … but they may also occur spontaneously. when discussing how genetic conditions are passed on in a family, it is important … have been diagnosed with the disorder already and whether genetic testing has been performed in other relatives). in …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… births. … achondroplasia is caused by a gene alteration (mutation) in the fgfr3 gene. the fgfr3 gene makes a protein … or in individuals who do not have the typical symptoms, genetic testing can be used to identify a mutation in the fgfr3 gene. genetic testing can identify mutations in 99 percent of …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… clotting. … factor v leiden is the name of a specific mutation ( genetic alteration) that results in thrombophilia, or an … a screening test called a coagulation screening test or by genetic testing (dna analysis) of the f5 gene. … the …
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… in the taf1 gene. they've also demonstrated that the mutation profiles of ccec tumors are sometimes similar to … cells from patients with ccec. their goal was to identify genetic mutations in ccec tumor cells that are absent from … 47 ccec patients. their results defined the frequency of mutation of the genes previously implicated in ccec ( tp53 , …
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
… with adhd. research has shown that adhd can have a genetic basis, which means that it is likely that a person … adhd, attention span, autism, neurological disorder, genetic disorder, genetic condition, gene mutation … attention deficit hyperactivity disorder (adhd) is …