Categoría: REVIEW
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ORMDL3: from an asthma susceptibility gene to multi-disease associations
The ORMDL3 protein, encoded by the ORMDL3 gene, functions as a transmembrane protein in the endoplasmic reticulum. Initially identified through its genetic link to asthma susceptibility, ORMDL3 plays a key role in regulating sphingolipid metabolism by …
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Adult-onset vanishing white matter disease caused by the EIF2B5 c.185A>T (p.Asp62Val) variant
BackgroundVanishing white matter disease (VWMD; OMIM 603896), also known as childhood ataxia with central nervous system hypomyelination (CACH), is a rare autosomal recessive leukodystrophy caused by pathogenic variants in the EIF2B gene family (EIF2B1…
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A Novel Variant of STAG1 Gene and Literature Review
Annals of Human Genetics, Volume 90, Issue 3, Page 113-120, May 2026.
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The molecular basis of lactase persistence: Linking genetics and epigenetics
Annals of Human Genetics, EarlyView.
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A historical perspective on Lionel Penrose: Scientist, geneticist and dedicated opponent of eugenics
Annals of Human Genetics, EarlyView.
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The dawn of a cure for sickle cell disease through CRISPR‐based treatment: A critical test of equity in public health genomics
Annals of Human Genetics, EarlyView.
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A comprehensive review of HVS‐I mitochondrial DNA variation of 19 Iranian populations
Annals of Human Genetics, EarlyView.