8 citations
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December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
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8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
25 citations
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October 2007 in “Developmental biology” Clim proteins are essential for maintaining healthy corneas and hair follicles.
January 2026 in “Acta Dermato Venereologica” Dupilumab effectively treats severe skin issues in a rare genetic disorder.
1 citations
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December 2025 in “Selçuk tıp dergisi/Selçuk Üniversitesi Tıp Fakültesi dergisi” Lower 2D:4D finger ratios in HS patients suggest prenatal hormone influence on the disease.
11 citations
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January 2015 in “Journal of cellular physiology” HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
January 2025 in “Dermatology Research and Practice” Higher activity in lichen planopilaris is linked to certain immune and tissue genes.
8 citations
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March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
2 citations
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September 2024 in “Animal Cells and Systems” Hepatitis B virus alters steroid hormones in male mice, reducing dihydrotestosterone to inhibit viral replication.
2 citations
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June 2018 in “International Journal of Pharmacological Research” Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
7 citations
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April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
3 citations
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May 2018 in “The American Journal of Medicine” A woman's long-term scalp issues were diagnosed as a rare skin disorder called cutaneous Langerhans cell histiocytosis.
April 2023 in “Journal of Investigative Dermatology” An elderly woman's upper lip lump, thought to be a mucocele, was actually a rare type of lymphoma usually found on legs, treated successfully with chemotherapy and radiation.
October 2024 in “Journal of the Endocrine Society” Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
April 2023 in “World Journal of Advanced Research and Reviews” Frequent blood transfusions in beta thalassemia can lead to thyroid problems.
4 citations
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January 1992 in “Clinical Oncology” Some cancer treatments can cause abnormal fine hair growth.
January 2002 in “中国人民解放军军医大学学报(英文版)” Human hair keratin scaffold material degrades in muscles mainly through the ubiquitin system with lysosome help.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
25 citations
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December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
Discoid Lupus Erythematosus is more common in women aged 31-40, often worsened by sunlight, and confirmed by specific lab tests.
16 citations
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August 2000 in “British Journal of Dermatology” Removing the liver tumor improved the patient's skin condition and hair growth.
7 citations
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December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
25 citations
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August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
137 citations
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September 2005 in “Proceedings of the National Academy of Sciences of the United States of America” The HR protein helps hair grow by blocking a hair growth inhibitor, aiding in hair follicle regeneration.
194 citations
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November 2006 in “Science” A genetic mutation in the LIPH gene causes hair loss and growth defects.