August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
November 2025 in “Journal of Investigative Dermatology” BTNL2 helps protect hair follicles from immune attacks.
September 2025 in “Genes & Diseases” Lgr6+ cells are important for tissue repair and could be a target for treating cancer and other diseases.
March 2022 in “Clinical Cosmetic and Investigational Dermatology” CDKN2AIP gene is less active in nevus sebaceous, affecting related RNA networks.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
36 citations
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January 2019 in “Nature communications” High lactate dehydrogenase activity is not necessary for the growth of squamous cell carcinoma.
221 citations
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July 2012 in “Proceedings of the National Academy of Sciences of the United States of America” BMAL1 controls skin cell growth and UV damage risk, peaking at night.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
April 2023 in “Journal of Investigative Dermatology” RNase L suppresses regeneration in mammals.
November 2018 in “Journal of dermatology & cosmetology” The document reports the first case of a rare skin condition in Colombia, the 19th case worldwide.
April 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” ASH2L is essential for skin and hair development.
14 citations
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August 2015 in “Endocrinology” The antibody 005-C04 blocks prolactin receptors, causing reversible infertility, impaired lactation, and hair regrowth in female mice.
20 citations
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January 2008 in “Journal of Korean Medical Science” NGAL may help maintain skin balance and is linked to skin disorders and cancers.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
15 citations
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February 2015 in “Cell & tissue research/Cell and tissue research” P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
9 citations
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October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
September 2024 in “Genes” CRABP1 boosts hair cell growth in Hu sheep by affecting key genes.
2 citations
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July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
1 citations
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November 2021 in “Advances in Dermatology and Allergology” Most patients with cutaneous lupus erythematosus in Bangladesh are young women, with chronic forms and photosensitivity being common.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
11 citations
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July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
6 citations
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December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
High CCL11 levels may indicate poor response to baricitinib in severe alopecia areata.
104 citations
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July 1994 in “The Journal of Cell Biology” Basonuclin helps keratinocytes multiply and prevents them from fully maturing.
3 citations
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October 2020 in “Journal of Investigative Dermatology” Removing β-catenin in certain stem cells causes hair whitening and pigmentation issues.
87 citations
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January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
November 2025 in “Journal of Investigative Dermatology” Genetic variants in specific genes cause central centrifugal cicatricial alopecia.