November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
76 citations
,
January 1998 in “Mammalian Genome” 18 citations
,
June 2001 in “Journal of Investigative Dermatology” Adding a specific gene to skin cells can help treat skin disorders like psoriasis.
13 citations
,
May 2001 in “Current problems in dermatology” Keratin proteins in epithelial cells are dynamic and crucial for cell processes and disease understanding.
January 1999 in “Journal of Investigative Dermatology”
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
125 citations
,
August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
92 citations
,
February 2005 in “Journal of Investigative Dermatology” July 1995 in “Journal of Dermatological Science” 8 citations
,
June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
43 citations
,
October 2006 in “Journal of Cell Science” Keratin 10 end domains may increase skin cancer risk by reducing cell death.
April 2012 in “Development” Rac1 is crucial for normal hair structure and pigmentation.
September 2016 in “Journal of Dermatological Science” A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
March 2026 in “Adipocyte” Spt4 and Spt6 are essential for fat cell development.
4 citations
,
May 2022 in “Genes & Diseases” 9 citations
,
April 1999 in “Mammalian Genome” Acidic keratin genes are on CFA9 and basic keratin genes are on CFA27 in dogs.
46 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting Acvr1b in mice causes severe hair loss and thicker skin.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
84 citations
,
May 2008 in “Biological Chemistry” Human tissue kallikreins help regulate skin barrier functions and affect skin health.
3 citations
,
January 2025 in “动物学研究” The gene GJA1 is important for regulating coarse hair density in goats.
42 citations
,
September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
96 citations
,
June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
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.
April 2010 in “Cancer Research” Mcl-1 can activate Wnt signaling in skin cells, promoting growth and possibly cancer.
139 citations
,
September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
76 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.