April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
29 citations
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December 2004 in “Developmental biology” cDermo-1 causes dense skin, feathers, and scales in chickens.
10 citations
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January 2018 in “Organogenesis” Porcine acellular dermal matrix treatment helps wounds heal faster and reduces scarring by affecting Jag1 in skin stem cells.
4 citations
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February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
1 citations
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May 2025 in “The Journal of Rheumatology” Careful monitoring is crucial to prevent JC virus reactivation in lupus patients treated with rituximab.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” MEF2C is crucial for normal hair cycle progression.
18 citations
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June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
29 citations
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June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
June 2001 in “Journal of The American Academy of Dermatology” The exam tested knowledge on various skin-related topics for CME credit.
December 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” MCPIP1 in myeloid cells is important for skin cancer development and healthy hair growth.
April 2020 in “Journal of the Endocrine Society” A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
July 2024 in “Journal of Investigative Dermatology” JW0061 may be a new treatment for hair loss by promoting hair growth through WNT signaling.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
March 2026 in “Journal of Investigative Dermatology” 179 citations
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June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
89 citations
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March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
August 2023 in “Dermatology reports” A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
65 citations
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September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
January 2026 in “International Journal of Molecular Sciences” Lifestyle changes and environmental strategies can help address declining testosterone levels.
September 2023 in “Animals” Genes linked to wool fineness in sheep have been identified.
May 2023 in “IntechOpen eBooks” More research is needed to understand how testosterone is maintained in adult males.
June 2024 in “Research Square (Research Square)” Jagged-1 in skin Tregs is crucial for timely wound healing by recruiting specific immune cells.
165 citations
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September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
November 2025 in “Journal of Investigative Dermatology” Alpha-MSH affects mitochondrial function, and MC1R mutations may increase skin aging.