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Disease-causing Mutation

A gene alteration that causes or predisposes an individual to a specific disease.
National Institutes of Health

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AH Receptor-Interacting Protein

Papers overview

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Review
2013
Review
2013
Ivacaftor: the first therapy acting on the primary cause of cystic fibrosis.
Cystic fibrosis (CF) is a life-shortening disorder that affects over 30,000 people in the U.S. and 70,000 worldwide. CF is caused… 
2012
2012
Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family
Purpose To identify a novel disease-causing mutation of the GJA3 (gap junction alpha-3 protein) gene in a Chinese family with… 
2006
2006
Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Background.  Congenital atrichia with papular lesions is a rare, recessively inherited condition of total alopecia, characterized… 
2006
2006
Prioritizing regions of candidate genes for efficient mutation screening
The availability of the complete sequence of the human genome has dramatically facilitated the search for disease‐causing… 
2005
2005
Characterization of a new disease‐causing mutation of SH2D1A in a family with X‐linked lymphoproliferative disease
Males with an expressed mutation in the SH2D1A gene that encodes an SH2 domain protein named SH2D1A or SAP (NP_002342; signaling… 
2002
2002
Microsatellite instability and mutation analysis of candidate genes in unselected sardinian patients with endometrial carcinoma
Microsatellite instability (MSI) is due mostly to a defective DNA mismatch repair (MMR). Inactivation of the two principal MMR… 
2002
2002
Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population.
Oral clefts generally have a multifactorial etiology. A number of genes contribute to the formation of the face and palate. Cleft… 
2000
2000
The identical 5′ splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect
1999
1999
Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.
Medium-chain acyl-CoA dehydrogenase (MCADH) deficiency, an autosomal recessive inherited disorder, is the most common genetic… 
1993
1993
Evidence against keratin gene mutations in a family with ichthyosis hystrix Curth-Macklin.
Ichthyosis hystrix Curth-Macklin is a rare autosomal dominant disease characterized clinically by hyperkeratosis and… 
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