June 2025 in “Preprints.org” EDA is vital for bone and cartilage formation and could help treat skeletal disorders.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
4 citations
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January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
1 citations
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
January 2024 in “International journal of molecular sciences” Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
44 citations
,
April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
December 2025 in “JGH Open” Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
June 2025 in “British Journal of Dermatology” Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
132 citations
,
August 2008 in “Development” Dlx3 is essential for hair growth and regeneration.
79 citations
,
February 2009 in “Human Genetics” 30 citations
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August 1984 in “Journal of the American Academy of Dermatology” Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
16 citations
,
January 2018 in “Advances in experimental medicine and biology” Hair and wool have diverse keratins and keratin-associated proteins.
13 citations
,
February 2019 in “Zoology” Lustre mutant sheep have normal hair structure and proteins but differ in felting properties.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
5 citations
,
April 2022 in “Genes” miR-129-5p affects hair growth by targeting the HOXC13 gene.
3 citations
,
January 2023 in “International journal of molecular sciences” Certain miRNAs play a key role in the growth of cashmere by affecting hair follicle development and regeneration.
1 citations
,
May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
July 2025 in “Frontiers in Medicine” Baricitinib successfully regrew hair in an 8-year-old boy with alopecia totalis linked to a KRT74 gene variant.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
December 2025 in “Journal of Clinical Medicine” Surgical debridement and targeted therapies can effectively heal chronic wounds in KID syndrome.
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
May 2024 in “International journal of surgery case reports” A man had a large, rare cyst in his mouth removed after 10 years, which fixed his swallowing and breathing problems.
112 citations
,
January 2004 in “The International journal of developmental biology” Feather patterns form through genetic and epigenetic controls, with cells self-organizing into periodic patterns.
65 citations
,
March 2017 in “Experimental Dermatology” Curly hair is influenced by specific genetic variations.
45 citations
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June 2003 in “Journal of Investigative Dermatology Symposium Proceedings” Understanding hair follicles through various models can help develop new treatments for hair disorders.