December 2023 in “The journal of cell biology/The Journal of cell biology” The mTurq2-Col4a1 mouse model shows how the basement membrane develops in live mammals.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
59 citations
,
September 2007 in “Biochemical and Biophysical Research Communications” The TRPV3 gene mutation affects hair growth by keeping mice in the growth phase longer, which could help treat hair loss.
15 citations
,
August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
January 2016 in “Memorial University Research Repository (Memorial University)” Hereditary hyperplastic gingivitis in silver foxes may be linked to errors in the MAPK signaling pathway, influenced by androgens.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
2 citations
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April 2022 in “Genes” The study found that the hair loss condition in Cesky Fousek dogs is influenced by multiple genes affecting skin and muscle structure, fat metabolism, and immunity.
June 2018 in “Reactions Weekly” A 65-year-old man developed a serious skin cancer linked to a drug he was taking for a fungal infection after a bone marrow transplant.
22 citations
,
May 2007 in “Molecular Biotechnology” 1 citations
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April 2015 in “InTech eBooks” RAGE is a potential target for melanoma treatment, but its effectiveness is uncertain due to variable expression levels.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
20 citations
,
April 2014 in “Autoimmunity” A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.
4 citations
,
May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
10 citations
,
October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
73 citations
,
June 2006 in “Animal genetics” The FGF5 gene determines hair length in dogs.
Loss of Dnmt3a and Dnmt3b leads to more aggressive skin tumors, but blocking PPAR-γ can reduce this effect.
105 citations
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October 2018 in “Nature” A small group of slow-growing cells causes basal cell carcinoma to return after treatment.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
30 citations
,
June 1993 in “The Journal of Cell Biology” The oncoprotein causes abnormal hair growth without increasing skin cancer risk.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
2 citations
,
May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
5 citations
,
August 1925 in “Archives of dermatology” An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
1 citations
,
April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
20 citations
,
March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.
The mutation helps mice handle heat better without affecting hair growth.
145 citations
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May 2008 in “Cancer Science” Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Folliculotropic mycosis fungoides has unique molecular features and cell interactions that could guide targeted therapy.
2 citations
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February 2021 in “FEBS open bio” Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.