Associations between polymorphisms of the CXCL12 and CNNM2 gene and hypertension risk: A case-control study.
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DOI: 10.1016/j.gene.2018.06.107
Abstract: BACKGROUND Hypertension is the most important risk factor for cardiovascular and cerebrovascular diseases. The study found that CXCL12 and CNNM2 gene affects the risk of coronary heart disease, but the relationship with hypertension is unclear.… read more here.
Keywords: risk; cxcl12 cnnm2; hypertension; cnnm2 gene ... See more keywords
Novel variant in the CNNM2 gene associated with dominant hypomagnesemia
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DOI: 10.1371/journal.pone.0239965
Abstract: The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-β-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be involved in maintaining Mg2+ homeostasis. Among these CNNMs, CNNM2… read more here.
Keywords: novel; hypomagnesemia; novel variant; cnnm2 gene ... See more keywords
The p.Pro482Ala Variant in the CNNM2 Gene Causes Severe Hypomagnesemia Amenable to Treatment with Spironolactone
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DOI: 10.3390/ijms23137284
Abstract: Renal hypomagnesemia syndromes involving CNNM2 protein pathogenic variants are associated with variable degrees of neurocognitive dysfunction and hypomagnesemia. Here, we report a family with a novel CNNM2 p.Pro482Ala variant, presenting with overt hypomagnesemia and mild… read more here.
Keywords: spironolactone; pro482ala variant; hypomagnesemia; cnnm2 ... See more keywords
CNNM2 Heterozygous Variant Presenting as Hypomagnesemia and West Syndrome: Expanding the Spectrum of CNNM2 Gene-Related Epileptic Disorders
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_1130_20
Abstract: West syndrome (WS) is one of the few most common early infantile epileptic encephalopathy. Although structural etiology contributes to a significant proportion of WS in developing countries, at the same time monogenic variants also play… read more here.
Keywords: west syndrome; cnnm2 heterozygous; hypomagnesemia; gene ... See more keywords