January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
60 citations
,
March 2009 in “Dermato-Endocrinology” The exact molecular mechanisms of sebaceous gland function are still unclear.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
11 citations
,
February 2018 in “Oncotarget” Lower SMAD2/3 activation predicts more severe skin cancer.
33 citations
,
April 2003 in “Oncogene”
1 citations
,
September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
April 2017 in “Journal of Investigative Dermatology” Reduced Stx17 expression may contribute to Alopecia Areata.
7 citations
,
July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
23 citations
,
March 2017 in “Journal of Investigative Dermatology” An artificial lipid barrier can restore hair growth in cases of SCD1 deficiency.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” GATA6 is important for maintaining and differentiating cells in a key area of human skin.
March 2023 in “Authorea (Authorea)” Early diagnosis and treatment of systemic-onset juvenile idiopathic arthritis are crucial for improvement.
7 citations
,
August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
27 citations
,
February 2020 in “EMBO Reports” MEX3A is crucial for maintaining intestinal stem cells in mice.
55 citations
,
March 2015 in “Carcinogenesis” WNT10A helps esophageal cancer cells spread and keep renewing themselves.
27 citations
,
February 2009 in “Autoimmunity Reviews” The European Society of Cutaneous Lupus Erythematosus created a questionnaire to standardize patient assessment and improve care for cutaneous lupus.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
22 citations
,
May 2008 in “Acta veterinaria Scandinavica” English springer spaniels are more prone to severe sebaceous adenitis than standard poodles.
11 citations
,
January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
11 citations
,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
5 citations
,
May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
December 2024 in “European journal of medical research” 2 citations
,
August 2024 in “Animal Bioscience” m6A-circHECA may affect cashmere goat hair growth and is possibly controlled by gene promoter methylation.
April 2023 in “Journal of Investigative Dermatology” MPZL3 protein helps control the size of oil glands and the growth of oil-producing cells in both mice and humans.
24 citations
,
July 2015 in “Molecular Medicine Reports” Lysophosphatidic acid boosts stem cell growth and movement by creating reactive oxygen species.
February 2024 in “BMC genomics” The TRPV3 gene variant may cause the long-haired suri alpaca coat.
November 2024 in “Journal of Investigative Dermatology” Secukinumab reduces immune activity in hidradenitis suppurativa skin.
6 citations
,
May 2022 in “Colloids and Surfaces B: Biointerfaces” Eating peptides from certain shellfish may help wounds heal faster by reducing inflammation.
27 citations
,
May 2011 in “Journal of Investigative Dermatology” TCHHL1 is a protein important for hair growth, found in hair follicles.
October 2025 in “BMC Pediatrics” Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.