59 citations
,
November 2002 in “Pediatric Dermatology” A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
18 citations
,
November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
95 citations
,
February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
21 citations
,
April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
20 citations
,
April 2000 in “Experimental dermatology” ODC transgenic mice can model human hair loss with skin lesions.
1 citations
,
September 2023 in “Animals” A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
30 citations
,
October 2010 in “Biochemical and biophysical research communications” The Gsdma3 gene is essential for normal hair development in mice.
11 citations
,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
2 citations
,
November 2018 in “Indian Journal of Pharmaceutical Education” The developed model can predict effective 5-alpha-reductase enzyme inhibitors.
November 2022 in “Journal of Investigative Dermatology” Rare genetic variants in 125 genes are linked to male-pattern hair loss.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
January 2024 in “Wiadomości Lekarskie” The ABI1 gene contributes to prostate cancer progression and treatment resistance.
1 citations
,
January 2013
April 2017 in “Journal of Investigative Dermatology” Hair loss patterns differ between males and females due to 5 master regulators and JAK-STAT signaling affects hair growth.
April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
December 2024 in “Veterinary Sciences” Key genes and pathways improve wool quality in Zhexi Angora rabbits.
17 citations
,
August 2019 in “Archives of Cardiovascular Diseases” Low testosterone in men is a risk factor for a specific heart rhythm issue, and testosterone treatment may help prevent it.
1 citations
,
December 2022 in “BMC Genomics” The Msx2 gene affects feather development in Hungarian white geese and a specific gene variation could indicate feather quality.
October 2011 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Certain gene variations are significantly linked to hair loss, especially in white people.
86 citations
,
August 2011 in “Toxicological sciences” TCDD speeds up skin barrier formation by increasing certain gene expressions.
28 citations
,
November 2019 in “Gene” The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
26 citations
,
October 2018 in “Cancer Management and Research” High DKK1 levels predict worse survival in head and neck cancer.
10 citations
,
August 2023 in “The EMBO Journal” Kdm6b is crucial for skin cell differentiation.
23 citations
,
November 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Finasteride works better for baldness in people with shorter gene repeats.
4 citations
,
July 2020 in “Biochemical and Biophysical Research Communications” A protein called ectodysplasin-A2 increases a hair growth inhibitor in balding cells, which could be a target for hair loss treatment.
8 citations
,
January 2015 in “Genetics and molecular research” Researchers found four key proteins that affect the development of a specific hair type in Yangtze River Delta white goats.
7 citations
,
January 2015 in “Dermatology” Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.