July 2022 in “Journal of Investigative Dermatology” Arg1+ macrophages may play a role in Alopecia Areata, offering new treatment targets.
27 citations
,
May 2011 in “Journal of Investigative Dermatology” TCHHL1 is a protein important for hair growth, found in hair follicles.
113 citations
,
May 2002 in “PubMed” Overexpressing COX-2 in mice skin reduces skin tumor development.
19 citations
,
July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
5 citations
,
April 2011 in “The Lancet” Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.
4 citations
,
November 2024 in “Journal of Advanced Research” Targeting NMMHC IIA may help treat blood-brain barrier damage.
May 2026 in “Frontiers in Medicine” The patient's hair improved after treatment, but the genetic link is unclear.
43 citations
,
January 1999 in “Endocrinology” Cortisol increases a specific protein in bone cells, which may help explain its negative effects on bone.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
90 citations
,
February 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Interleukin-1 increases keratin K6 production in skin cells.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” A CCS patient with severe complications was successfully treated using combined therapies.
20 citations
,
August 2005 in “Journal of Cutaneous Pathology” The protein ARA70/ELE1 is involved in male pattern baldness, and lower levels of its short form may lead to hair thinning.
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.
53 citations
,
October 2003 in “Genetics” The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
September 2017 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” CCCA can affect both genders and all ages, and it has a genetic component.
1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
March 2026 in “Journal of Investigative Dermatology” February 2025 in “Gastroenterology” Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.
10 citations
,
November 2020 in “American Journal Of Pathology” Integrin β1 is crucial for liver structure and function, preventing fibrosis.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
September 2016 in “Journal of dermatological science” The OVOL1-OVOL2 axis is important for hair follicle differentiation and can help diagnose certain hair-related tumors.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
February 2024 in “Research Square (Research Square)” Proteins from Tianshan red deer abomasum have strong anti-inflammatory, anti-tumor, and antioxidant effects.
1 citations
,
September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
November 2019 in “European journal of internal medicine” A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
3 citations
,
January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
3 citations
,
March 2019 in “Acta histochemica” Angiotensin II is found at higher levels in black sheep skin and may influence coat color.