60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
24 citations
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December 2018 in “Inflammation and Regeneration” Phospholipase A2 enzymes play key roles in skin health and disease.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
2 citations
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January 1993 Trichohyalin is a versatile protein involved in hair and skin structure.
37 citations
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September 2003 in “Journal of Medicinal Chemistry” A substance called Compound 2g can strongly block STS (a hormone-related enzyme) without affecting estrogen levels, making it potentially good for treating breast cancer.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
37 citations
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October 2006 in “Steroids” New sulfur-containing steroid analogs show promise for more targeted medical treatments.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
October 2021 in “Research Square (Research Square)” A 532 nm laser helps tendon stem cells grow and become tendon-like by increasing Nr4a1 activity, which may speed up tendon repair.
July 2024 in “Journal of Investigative Dermatology” Modulating the BTNL2 pathway can prevent hair loss in mice.
April 2023 in “Journal of Investigative Dermatology” An automated system can predict death risk in thin melanoma by analyzing immune cells.
May 2022 in “Hair transplant forum international” The document's conclusion cannot be provided because the content is not available.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
8 citations
,
January 2014 in “Indian Dermatology Online Journal” Trichostasis spinulosa is a common but often unnoticed skin condition involving bundled vellus hairs, especially in people with darker skin or UV exposure.
October 2024 in “Journal of the Endocrine Society” Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.
3 citations
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December 2024 in “Journal of Animal Science” LncRNA MSTRG.14227.1 hinders hair follicle development in cashmere goats, affecting cashmere quality.
47 citations
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July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
372 citations
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December 2004 in “Nature Genetics” September 2025 in “Journal of Investigative Dermatology” SLC3A2 is crucial for hair follicle stem cell function and hair growth.
110 citations
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April 2009 in “Cell Motility and the Cytoskeleton” β‐thymosins, especially thymosin β4, help in heart protection, wound healing, and hair growth by stabilizing actin in cells.
1 citations
,
August 2025 in “Bioengineering” Combining FTSC with TSN6 peptide greatly improves wound healing.
42 citations
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September 1985 in “British Journal of Dermatology” Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
November 2021 in “Research Square (Research Square)” A 532 nm laser at 15 J/cm2 speeds up tendon healing by increasing tendon stem cell growth and tendon-related gene activity.
3 citations
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January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.
5 citations
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March 2008 in “DMW - Deutsche Medizinische Wochenschrift” A man was poisoned with thallium, treated successfully, but still had some nerve issues after 6 months.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
59 citations
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November 2011 in “Development” Trps1 is essential for proper hair follicle development.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.