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Functional analysis of human promoter polymorphisms.
The potential importance of gene regulation in disease susceptibility and other inherited phenotypes has been underlined by the observation that the human genome contains fewer protein coding genesExpand
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The human hyaluronan synthase genes: genomic structures, proximal promoters and polymorphic microsatellite markers.
The glycosaminoglycan (GAG) hyaluronan (HA) is a key component of the vertebrate extracellular matrix (ECM) and is synthesised by the HA synthase (HAS) enzymes HAS1, HAS2 and HAS3 at the plasmaExpand
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A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in either the TSC1 or the TSC2 genes and characterized by the development of benign hamartomatous growths inExpand
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Functional analysis of polymorphisms in the promoter regions of genes on 22q11
Segmental aneusomy, which includes chromosome 22 deletion syndrome (del(22)(q11.2q11.2)), has been associated with DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly faceExpand
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Tsc1 haploinsufficiency without mammalian target of rapamycin activation is sufficient for renal cyst formation in Tsc1+/- mice.
Tuberous sclerosis complex (TSC) is caused by mutations in either the TSC1 or TSC2 gene. Both genes are generally considered to act as tumor suppressors that fulfill Knudson's "two-hit hypothesis"Expand
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Strong bias in the location of functional promoter polymorphisms
A considerable proportion of heritable human phenotypic variation is thought to result from altered gene expression. Unfortunately, it is currently impossible to use bioinformatic analysis toExpand
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Low gene expression conferred by association of an allele of the 5-HT2C receptor gene with antipsychotic-induced weight gain.
OBJECTIVE Association has been reported between the C allele of a -759C/T polymorphism in the promoter of the 5-HT2C receptor gene (HTR2C) and antipsychotic-induced weight gain, suggesting thatExpand
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Promoter polymorphisms in glutathione-S-transferase genes affect transcription.
The glutathione-S-transferases are a group of enzymes that play a major role in detoxification and defence against toxic, carcinogenic and other compounds. We analysed the proximal promoters of 14Expand
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CAG repeat length in the hKCa3 gene and symptom dimensions in schizophrenia
BACKGROUND Long CAG repeats in the hKCa3 potassium channel gene have been associated with schizophrenia. We sought evidence for associations between this polymorphism and aspects of the schizophreniaExpand
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A high proportion of polymorphisms in the promoters of brain expressed genes influences transcriptional activity.
There is increasing interest in the possibility that polymorphisms affecting gene expression are responsible for a significant proportion of heritable human phenotypic variation, including humanExpand
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