May 2005 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Truncated LTBP-1 disrupts TGF-beta signaling, affecting hair growth.
November 2025 in “The Journal of Immunology” BST2 is highly expressed in certain immune cells in alopecia areata, suggesting a role in the disease.
16 citations
,
January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
21 citations
,
January 2000 in “Fetal Diagnosis and Therapy” Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
29 citations
,
December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
6 citations
,
January 2013 in “Journal of Veterinary Medical Science” The dog's skin and anemia issues returned after stopping treatment for Babesia gibsoni.
7 citations
,
June 2018 in “Journal of the American Academy of Dermatology” The document suggests finding a simpler, cheaper way to diagnose Uncombable Hair Syndrome.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
1 citations
,
January 2014 in “International Journal of Trichology” A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
40 citations
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May 2005 in “Journal of Cell Science” Truncated LTBP-1 disrupts TGF-β signaling, affecting hair growth.
13 citations
,
August 2020 in “Journal of Laparoendoscopic & Advanced Surgical Techniques” Biotin supplements are generally ineffective in preventing hair loss after sleeve gastrectomy.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” BIVV009 is a safe treatment for bullous pemphigoid that reduces C3 deposition without harmful side effects.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
5 citations
,
January 1970 in “Journal of Nepal Paediatric Society” Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
April 2024 in “International Journal of Advanced Research” Vitamin B12 deficiency is linked to hair loss and skin pigmentation changes.
9 citations
,
February 1981 in “Australian journal of biological sciences” Lambs fed a liquid diet showed abnormal wool and skin, which improved with more B-vitamins, suggesting a link to B-vitamin deficiency.
7 citations
,
March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
5 citations
,
December 1942 in “Journal of the American Medical Association” Choline and biotin are important for liver health and preventing certain deficiencies in animals, and more research is needed to understand their benefits in humans.
54 citations
,
July 1967 in “Science” Decomposed tritiated thymidine is less accurate for DNA tracing, and hair changes can indicate malnutrition.
30 citations
,
July 1984 in “Journal of Animal Science” Adding biotin to sows' diets increased the number of pigs weaned per litter.
8 citations
,
June 1981 in “Clinica Chimica Acta” 7 citations
,
March 2022 in “The FASEB journal” Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
15 citations
,
August 1991 in “American Journal of Medical Genetics” A special diet can fix hair problems in argininosuccinase deficiency.
4 citations
,
April 1978 in “PubMed” Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
24 citations
,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.