3 citations
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December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
74 citations
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October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
69 citations
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January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
13 citations
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February 1951 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” Young pigs need 10-20 mg of calcium pantothenate daily to fully recover from pantothenic acid deficiency.
Improved nutrition quickly healed the patient's skin lesions.
1 citations
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December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
66 citations
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December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
4 citations
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January 2001 in “Archives of Biochemistry and Biophysics” Activated ras can protect kidney cells from a certain substance that causes cell death.
5 citations
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January 2021 in “Indian Journal of Pharmacology” Nilotinib can cause generalized keratosis pilaris.
September 2025 in “Cureus” Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
39 citations
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January 2008 in “World Journal of Gastroenterology” Pegylated interferon-alpha 2a can cause a rare nerve disorder, but early treatment can lead to full recovery.
24 citations
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March 2016 in “Journal of Investigative Dermatology” TIP39 and PTH2R help control calcium levels and skin cell development.
1 citations
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September 2022 in “Canadian Journal of Ophthalmology” Paraproteinemic keratopathy can show eye symptoms before other signs of disease, needing careful treatment and long-term follow-up.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
October 2022 in “Rheumatology (Bulgaria)” Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
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.
January 2015 in “Journal of Neuromuscular Diseases” Danon disease can be hard to diagnose due to non-specific symptoms.
January 2011 in “Journal of the American Academy of Dermatology” Finasteride may cause pseudoporphyria, a blistering skin condition.
127 citations
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August 2016 in “The oncologist” Understanding and managing side effects of hedgehog pathway inhibitors can improve treatment for advanced basal cell carcinoma.
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.
67 citations
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August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
11 citations
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December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
1 citations
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November 2022 in “International journal of trichology” A girl with a rare skin condition improved after one month of treatment with acitretin.
81 citations
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March 1985 in “Journal of Clinical Investigation” Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
2 citations
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February 2023 in “International journal of molecular sciences” Tetrathiomolybdate reduces hair growth marker in skin cells by boosting harmful oxygen molecules, but effects can be reversed.
July 2024 in “Journal of Investigative Dermatology” PH-762 shows promise in treating skin cancer by effectively targeting and silencing PD-1 in tumors with minimal side effects.
65 citations
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February 2018 in “The Plant Journal” PLDζ2 and NPC4 have different roles in lipid changes and root hair growth in Arabidopsis under low phosphate, with PLDζ2 reducing root hair growth and NPC4 promoting it.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
16 citations
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January 2023 in “Regenerative Biomaterials” The scaffold with polydopamine and bioactive glass effectively promotes bone regeneration.