June 2019 in “Pediatric Dermatology” Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.
May 2018 in “European Journal of Dermatology” The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
578 citations
,
April 1993 in “Cell” TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.
223 citations
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January 2014 in “International Journal of Molecular Sciences” The conclusion is that proper signaling is crucial for hair growth and development, and errors can lead to cancer or hair loss.
157 citations
,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
139 citations
,
September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
74 citations
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September 2006 in “Cell Cycle” The HR protein's role as a repressor is essential for controlling hair growth.
45 citations
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August 2009 in “American Journal Of Pathology” Noggin promotes skin tumors by activating certain cell signaling pathways.
39 citations
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January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
30 citations
,
June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
26 citations
,
July 2012 in “Biochimica et Biophysica Acta (BBA) - General Subjects” The review found that different stem cell types in the skin are crucial for repair and could help treat skin diseases and cancer.
23 citations
,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
21 citations
,
June 2009 in “Mammalian genome” A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
20 citations
,
January 2013 in “Cell & Bioscience” Understanding how epigenetic regulation affects stem cells is key to cancer insights and new treatments.
17 citations
,
July 2013 in “Amino Acids” Increased ODC activity leads to skin tumors by recruiting stem cells, not by toxic byproducts.
17 citations
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March 2012 in “The Journal of Pathology” In vivo lineage labelling is better than in vitro methods for identifying and understanding stem cells.
11 citations
,
August 2009 in “Expert Opinion on Drug Discovery” We need better ways to test and understand SARMs to make safer and more effective treatments.
7 citations
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March 2022 in “Scientific reports” Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
7 citations
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June 2020 in “npj regenerative medicine” GDNF helps grow hair and heal skin wounds by acting on hair stem cells.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
3 citations
,
January 2023 in “Science advances” The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
1 citations
,
October 2025 in “International Journal of Molecular Sciences” Mutating the gmds gene in zebrafish increases hair cell numbers and regeneration.
1 citations
,
June 2025 in “Pigment Cell & Melanoma Research” SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
April 2010 in “The journal of immunology/The Journal of immunology” FoxN1 gene is crucial for proper thymus structure and normal skin appearance.
103 citations
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March 2011 in “PLoS Biology” Birds can lose neck feathers due to a genetic change that increases a gene's activity, helping them adapt to heat.
103 citations
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October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.