7 citations
,
November 2007 in “Differentiation” The NF-κB effector p65/RelA activates hair keratin genes, aiding hair formation.
7 citations
,
April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
6 citations
,
January 2025 in “Differentiation” WNT10A is important for tissue development and linked to various human disorders.
6 citations
,
December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
6 citations
,
June 1993 in “Veterinary Dermatology” A female Rottweiler had a rare genetic condition causing mostly hairless skin.
6 citations
,
July 2007 in “Developmental Dynamics” The molecule Wise is involved in the development of various structures in chick embryos.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
5 citations
,
June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
4 citations
,
April 2019 in “JAAD Case Reports” DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
4 citations
,
September 2004 in “Experimental Dermatology” Connexin mutations can cause various diseases like hearing loss and skin disorders.
3 citations
,
June 2018 in “Internal Medicine” Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
3 citations
,
March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
2 citations
,
June 2019 in “The Journal of Dermatology” Two cases showed skin abnormalities without bone or neural defects.
2 citations
,
August 2017 in “British Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
2 citations
,
September 2004 in “Experimental Dermatology” Keratinocyte adhesion problems can cause skin and hair disorders.
1 citations
,
January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
1 citations
,
February 2017 in “International journal of anatomy and research” Understanding fetal skin development helps diagnose congenital skin diseases.
1 citations
,
November 2025 in “Aging Cell” EDA2R is a key gene linked to ageing and diseases, and targeting it may help treat conditions like hair loss and chronic diseases.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
October 2025 in “International Journal of Advanced Multidisciplinary Research and Studies” Hairless dogs have unique skin adaptations to regulate temperature and protect against environmental factors.
Alopecia in dogs requires identifying the cause for effective treatment.
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
Polarized microscopy helps identify hair irregularities in genetic disorders.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
December 2024 in “Chemical Senses” Taste disorders in Cronkhite-Canada syndrome are severe in the front of the tongue but improve with treatment.
November 2023 in “British Journal of Dermatology” Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.