176 citations
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September 2006 in “Stem Cells” BMP signaling prevents hair growth by stopping stem cell activation.
5 citations
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January 1993 in “PubMed” Retinoic acid can change skin structures in vertebrates, like turning scales into feathers or hair buds into glands.
9 citations
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November 2014 in “Indian Journal of Endocrinology and Metabolism” A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
April 2025 in “Experimental Eye Research” The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
110 citations
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November 1984 in “The American Journal of Medicine” A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
3 citations
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April 2017 in “Medicine” An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
17 citations
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April 2009 in “Andrologia” A boy's early puberty caused by a testicular tumor returned to normal after surgery.
24 citations
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July 1994 in “Journal of Investigative Dermatology” January 1969 in “Santes Creus: Boletín del Archivo Bibliográfico de Santes Creus” Planarians regenerate using conserved gene expression mechanisms, with runt-1 crucial for cell type specification.
2 citations
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June 2013 in “Journal of Dermatological Case Reports” Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
31 citations
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January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
April 2018 in “Plastic & Reconstructive Surgery Global Open” LGR6+ stem cells may improve bone healing.
5 citations
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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.
September 2022 in “Research Square (Research Square)” Increasing Rps14 helps grow more inner ear cells and repair hearing cells in baby mice.
65 citations
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September 2004 in “The American journal of pathology” Blocking BMP signaling causes hair loss and disrupts hair growth cycles.
August 2024 in “Journal of Dermatology & Cosmetology” Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.
12 citations
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July 1957 in “Journal of Investigative Dermatology” Giving dihydrotachysterol to mother rats caused skin hardening and bone issues in their babies through milk.
March 2026 in “Calcified Tissue International” The EDA pathway plays a key role in bone development by interacting with other signaling pathways.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
January 2024 in “Wiadomości Lekarskie” Bisphosphonate therapy can cause jawbone necrosis, so dental care is crucial before and during treatment.
2 citations
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January 2008 in “International Journal of Neuroscience” A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
16 citations
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December 2006 in “Chinese Medical Journal” Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.
April 2017 in “Turkish Journal of Pediatric Disease” Careful diagnosis is crucial in premature pubarche cases, as 20% have other conditions.
52 citations
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July 2011 in “PubMed” TRPS1 is crucial for bone, kidney, and hair follicle development.