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The Possible Implication of the S250C Variant of the Autoimmune Regulator Protein in a Patient with Autoimmunity and Immunodeficiency: In Silico Analysis Suggests a Molecular Pathogenic Mechanism for the Variant

research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant

11 citations , July 2014 in “Gene”

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

24 citations , May 2019 in “PLOS genetics”

Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.

research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding

4 citations , January 2023 in “Journal of Clinical Investigation”

Specific mutations in a receptor cause facial abnormalities and hair loss.

research NUDT15 R139C-related thiopurine leukocytopenia is mediated by 6-thioguanine nucleotide-independent mechanism in Japanese patients with inflammatory bowel disease

86 citations , November 2015 in “Journal of Gastroenterology”

The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.

research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women

11 citations , April 2019 in “Bioscience Reports”

Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.

research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis

43 citations , September 2001 in “Annals of Neurology”

Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.

research Development of a new therapeutic approach based on peptide nanoparticles delivering CRISPR-Cas9 for the specific targeting of KRAS mutations

September 2023 in “HAL (Le Centre pour la Communication Scientifique Directe)”

Peptide nanoparticles can effectively deliver CRISPR-Cas9 to target KRAS mutations in cancer.

research 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy

September 2019 in “Journal of Investigative Dermatology”

Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.

research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene

14 citations , February 1991 in “FEBS Letters”

Introducing the rat OTC gene partially corrected OTC deficiency in mice.

research Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype

11 citations , October 2007 in “Journal of Investigative Dermatology”

Mutations in the Sgk3 gene cause fuzzy hair in mice.

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