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research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi

1 citations , April 2024 in “Animal Genetics”

A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.

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 Blood MUC-18/MCAM expression in patients with melanoma: a suitable marker of poor outcome

10 citations , July 2013 in “British Journal of Dermatology”

High MUC-18/MCAM levels in blood indicate a worse outlook for melanoma patients.

research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11*1

1 citations , May 2004 in “Biochemical and Biophysical Research Communications”

Two new gene clusters important for hair formation were found on human chromosome 11.

research WNT10A , dermatology and dentistry

30 citations , June 2021 in “British Journal of Dermatology”

Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.

research SCA-1+ Cells with an Adipocyte Phenotype in Neonatal Mouse Skin

28 citations , July 2005 in “Journal of Investigative Dermatology”

Sca-1+ cells in newborn mouse skin may become fat cells.

research Human Leukocyte Antigen Class II Alleles Are Associated with Risk of Alopecia Areata

36 citations , July 2007 in “Journal of Investigative Dermatology”

Certain HLA class II alleles increase or decrease the risk of alopecia areata.

research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report

May 2025 in “Dermatology Reports”

A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.

research Human KAP Genes, Only the Half of it? Extensive Size Polymorphisms in Hair Keratin-Associated Protein Genes

53 citations , June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology”

KAP genes show significant genetic variability, but its impact on hair traits is unclear.

research Paxillin regulates androgen receptor expression associated with granulosa cell focal adhesions

3 citations , April 2024 in “Molecular Human Reproduction”

Paxillin may help manage androgen-related disorders like PCOS by stabilizing androgen receptor proteins.

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