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research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene

November 2024

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

NUDT15 Polymorphism Explains Serious Toxicity to Azathioprine in Indian Patients With Chronic Immune Thrombocytopenia and Autoimmune Hemolytic Anemia: A Case Series

research NUDT15 polymorphism explains serious toxicity to azathioprine in Indian patients with chronic immune thrombocytopenia and autoimmune hemolytic anemia: a case series

10 citations , August 2020 in “Drug metabolism and drug interactions”

The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.

K15 Promoter-Driven Enforced Expression of NKIRAS Exhibits Tumor Suppressive Activity Against the Development of DMBA/TPA-Induced Skin Tumors

research K15 promoter-driven enforced expression of NKIRAS exhibits tumor suppressive activity against the development of DMBA/TPA-induced skin tumors

4 citations , October 2021 in “Scientific Reports”

NKIRAS2 can suppress certain skin tumors but its effect on cancer varies with context and expression level.

research Discreet monilethrix: De novo mutation on the example of polish families

1 citations , January 2017 in “International Journal of Trichology”

A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.

Transgenic Mice Display Hair Loss and Regrowth Overexpressing Mutant Hr Gene

research Transgenic mice display hair loss and regrowth overexpressing mutant <i>Hr</i> gene

January 2017 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu”

Mice with a changed Hr gene lose and regrow hair due to changes in the gene's activity.

research β1 Integrins with Individually Disrupted Cytoplasmic NPxY Motifs Are Embryonic Lethal but Partially Active in the Epidermis

17 citations , May 2013 in “Journal of Investigative Dermatology”

Mutations in β1 integrins cause embryonic death but have milder effects on skin.

Association of Rs231775 Genetic Variant of Cytotoxic T-Lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case-Control Study

research Association of Rs231775 Genetic Variant of Cytotoxic T-lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case–Control Study

7 citations , July 2020 in “Immunological Investigations”

The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.

Immune Deficiency-Related Enteropathy-Lymphocytopenia-Alopecia Syndrome Results from Tetratricopeptide Repeat Domain 7A Deficiency

research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

64 citations , August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology”

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.

Single Nucleotide Polymorphisms Associated with Elevated Alanine Aminotransferase in Patients Receiving Asunaprevir Plus Daclatasvir Combination Therapy for Chronic Hepatitis C

research Single nucleotide polymorphisms associated with elevated alanine aminotransferase in patients receiving asunaprevir plus daclatasvir combination therapy for chronic hepatitis C

2 citations , July 2019 in “PLOS ONE”

Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.

research Variation in the Exon 3–4 Region of Ovine KRT85 and Its Effect on Wool Traits

1 citations , August 2024 in “Animals”

KRT85 gene variations can help improve wool traits in sheep through selective breeding.

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