April 2018 in “Journal of Investigative Dermatology” NDRG1 protein helps infantile hemangioma, a common infant tumor, to grow, and its mismanagement by FOXO1 protein plays a big role in causing the tumor.
27 citations
,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
April 2018 in “DSpace@MIT (Massachusetts Institute of Technology)” Nephronectin is linked to worse outcomes in breast cancer and helps cancer spread.
January 2023 in “International Journal of Contemporary Pediatrics” A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
72 citations
,
October 1988 in “Archives of Disease in Childhood” Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
55 citations
,
November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
7 citations
,
August 2018 in “The American Journal of Dermatopathology” Researchers found a new early sign of Frontal Fibrosing Alopecia that could help avoid misdiagnosis.
Nail stem cells help nail and finger regeneration through BMP signaling.
April 2017 in “Journal of Investigative Dermatology” Deleting Crif1 in mouse skin disrupts skin balance and hair growth.
2 citations
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May 2017 in “Journal of the American Academy of Dermatology” Tofacitinib helped a 19-year-old regrow hair after other treatments failed.
January 2024 in “Dermatologic therapy” Tofacitinib is a safe treatment for hair loss in children, but long-term use may be needed for best results.
December 2018 in “International journal of women’s dermatology” FFA in young women is often missed, and no single treatment works best.
April 2017 in “Journal of Investigative Dermatology” A virus protein can activate a pathway that may lead to abnormal hair follicle development.
36 citations
,
March 2014 in “Cell death and differentiation” Disrupting β-catenin signaling in certain cells causes anorectal malformations.
9 citations
,
December 1987 in “Archives of Dermatology” Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
10 citations
,
December 1990 in “Archives of Dermatological Research”
May 2012 in “Research and reports in neonatology” The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” EGFR deficiency causes significant changes in skin cells and hair follicles.
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.
21 citations
,
July 2018 in “International Journal of Molecular Sciences” Foxn1 is crucial for skin development and healing, and altering its expression may aid regenerative medicine.
8 citations
,
September 2011 in “European Journal of Dermatology” Most treatments for Frontal Fibrosing Alopecia are ineffective, but early anti-inflammatory therapy may help and the condition may stabilize over time.
1 citations
,
June 2019 in “Current developments in nutrition” A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
248 citations
,
November 2011 in “The EMBO Journal” Wnt1/βcatenin signaling is crucial for heart repair after injury.
33 citations
,
September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
85 citations
,
October 2015 in “Proceedings of the National Academy of Sciences of the United States of America” NF-κB is crucial for zebrafish heart repair, affecting heart cell growth and repair processes.
85 citations
,
June 2017 in “Journal of Investigative Dermatology” Blimp1 is crucial for hair follicle growth and skin health.
January 2025 in “SSRN Electronic Journal” September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.