May 2015 in “Journal of Investigative Dermatology” Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
4 citations
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January 2006 in “PubMed” DHT deficiency may disrupt rat epididymis function by affecting estrogen receptors.
3 citations
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April 2010 in “The FASEB Journal” Estrogen and MLL enzymes work together to regulate genes important for hair growth and leukemia.
1 citations
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August 2024 in “Transgenic Research” Activated β-catenin affects hair growth and skin thickness, and changes are reversible.
2 citations
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February 2017 in “International Journal of Molecular Sciences” Erdr1 could be a new marker for diagnosing hair loss.
135 citations
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May 1994 in “Medical Entomology and Zoology” Mouse models help study genetic skin diseases.
175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
2 citations
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November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Mutant stem cells adapt their metabolism differently to outcompete normal cells in the skin.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.
3 citations
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January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
6 citations
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May 2000 in “Pediatric Dermatology” KID syndrome should be reclassified as an ectodermal dysplasia.
July 2022 in “Research Square (Research Square)” Lower PPARγ levels and specific gene variations are linked to more severe Frontal Fibrosing Alopecia.
April 2023 in “Journal of Investigative Dermatology” Proper cell death regulation is crucial for normal hair follicle regeneration and skin remodeling.
5 citations
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February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
April 2018 in “Journal of Investigative Dermatology” The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.
58 citations
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February 2016 in “Scientific reports” Blocking BACE1 and BACE2 enzymes causes hair color loss in mice.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
August 2023 in “Sabuncuoglu Serefeddin Health Sciences” CT60 polymorphism might increase the risk of Alopecia Areata.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Researchers found that certain miRNAs, which affect immune system regulation, are differently expressed in mice with a hair loss condition compared to healthy mice.
1 citations
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April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Melanocyte-associated antigens may play a key role in alopecia areata and could be targets for new treatments.
160 citations
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June 2008 in “American Journal Of Pathology” EGFR signaling is crucial for skin and hair health, and targeting it could help treat skin diseases and cancer.
178 citations
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October 2001 in “Genes & Development” The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
16 citations
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April 1978 in “Genetics Research” Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
Loss of Dnmt3a and Dnmt3b leads to more aggressive skin tumors, but blocking PPAR-γ can reduce this effect.
Loss of Dnmt3a and Dnmt3b increases aggressive skin tumors by affecting PPAR-γ.
5 citations
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February 2019 in “The New England Journal of Medicine” Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
8 citations
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March 2015 in “International Journal of Oncology” Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
September 2020 in “Acta Scientific Cancer Biology” Personalized treatment based on detailed tumor analysis successfully managed and reduced the patient's aggressive hair follicle cancer.