Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
Article Abstract:
Primary X-linked metal retardation (MRX) is a heterogeneous condition with affected patients having no distinctive clinical features in common except cognitive impairment. Many genetic defects linked to MRX can involve ten different genes. A new gene on the long arm of the X-chromosome has been characterized and identified in unrelated individuals of mutations predicted to cause loss of function. It is highly expressed in fetal brain, encoding a ologophrenin-1 protein containing a Rho-GTPase-activating protein domain. This demonstrates a link between cognitive impairment and defective signalling pathways that rely on Ras-like GTPase.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1998
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A common molecular basis for three inherited kidney stone diseases
Article Abstract:
Dent's disease, a type of hypercalciuric nephrolithiasis, has been linked to a defect in a gene called CLCN5. CLCN5 encodes CLC-5, a putative chloride channel. Dent's disease was originally viewed as a dysfunction in renal calcium transport and not of chloride or fluid volume. The XRN and XLRH aetilogy for Dent's disease indicates that CLCN5 may also play a role in other renal tubular disorders associated with kidney stones.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1996
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GATA3 haplo-insufficiency causes human HDR syndrome
Article Abstract:
Studies of the effect of GATA3 haplo-insufficiency are presented. The results reveal that this protein is essential for development and a lack of GATA3 seems to cause human HDR (renal anomaly) syndrome.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 2000
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