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Analysis of Hidradenitis Suppurativa-Linked Mutations in Four Genes and the Effects of PSEN1-P242LfsX11 on Cytokine and Chemokine Expression in Macrophages

research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages

25 citations , December 2018 in “Human Molecular Genetics”

The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.

research Skin precancer.

16 citations , January 1998 in “PubMed”

Sun exposure and genetics increase skin cancer risk from precancerous lesions.

research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation

14 citations , December 2010 in “Journal of human genetics”

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome

11 citations , March 2020 in “American Journal of Medical Genetics Part A”

A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.

research Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review

10 citations , September 2021 in “American Journal of Medical Genetics Part A”

Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.

A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family

research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family

9 citations , March 2018 in “European journal of dermatology/EJD. European journal of dermatology”

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response

5 citations , October 2021 in “American Journal of Medical Genetics Part A”

A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

Genome Wide Association Analysis of Root Hair Traits in Rice Reveals Novel Genomic Regions Controlling Epidermal Cell Differentiation

research Genome wide association analysis of root hair traits in rice reveals novel genomic regions controlling epidermal cell differentiation

2 citations , January 2023 in “BMC plant biology”

Scientists found new genetic areas that affect how rice root hairs grow and develop.

research Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination

2 citations , April 2025 in “Frontiers in Genetics”

The ASIP gene is crucial for determining cattle coat color.

research Atlas of Geriatric Dermatology

2 citations , January 2014 in “Springer eBooks”

The book details skin conditions in older adults, their link to mental health, cancer treatment importance, hair loss remedies, and managing autoimmune and itchy skin.

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