22 citations
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September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
478 citations
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September 1996 in “Proceedings of the National Academy of Sciences” Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
14 citations
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February 2011 in “Experimental dermatology” A protein called COMP is part of the connective tissue in normal human hair follicles and may be important for hair health.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
February 2026 in “The Laryngoscope” Airway issues can occur in Conradi–Hünermann–Happle syndrome and can be managed with minimally invasive procedures.
5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
14 citations
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January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
13 citations
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September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
November 2015 in “European Journal of Inflammation” Cicatricial alopecia, a permanent hair loss condition, is mainly caused by damage to specific hair follicle stem cells and abnormal immune responses, with gene regulator PPAR-y and lipid metabolism disorders playing significant roles.
PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.
1 citations
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April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
5 citations
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February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
4 citations
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October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
236 citations
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July 2001 in “Trends in Molecular Medicine” Future hair loss treatments should aim to extend hair growth, reactivate resting follicles, reverse shrinkage, and possibly create new follicles, with gene therapy showing promise.
119 citations
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November 2014 in “Trends in Cell Biology” Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
87 citations
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March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
86 citations
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December 2001 in “Experimental dermatology” Mutant mice help researchers understand hair growth and related genetic factors.
68 citations
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August 2012 in “Journal of the American Academy of Dermatology” Dermatoscopy is a useful tool for diagnosing hair disorders and can help choose samples for more detailed analysis.
62 citations
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January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
55 citations
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November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
47 citations
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March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
46 citations
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January 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice lacking Insig proteins had hair growth problems due to cholesterol buildup, but this was fixed by the drug simvastatin.
44 citations
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January 2005 in “Dermatology” Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
36 citations
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January 2012 in “International Journal of Trichology” Losing eyelashes or eyebrows can be a sign of many different health problems and needs a careful approach to treat effectively.
31 citations
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June 2017 in “Regeneration” BMP2 needs periosteal tissue to help regenerate mouse middle finger bones within a specific time.
25 citations
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July 2019 in “Experimental Dermatology” Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
25 citations
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May 2003 in “Expert Opinion on Therapeutic Patents” Steroid Sulfatase inhibitors show promise in treating hormone-dependent disorders like cancers, hair loss, and acne, with 667COUMATE being a potential candidate for breast cancer treatment trials.
23 citations
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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.
16 citations
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January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” New treatments and early diagnosis methods for permanent hair loss due to scar tissue are important for managing its psychological effects.