189 citations
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July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
9 citations
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November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
17 citations
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September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
April 2019 in “Journal of the Endocrine Society” A 12-year-old boy with PAIS successfully developed male characteristics using high-dose testosterone and anastrozole.
February 2026 in “Nature Communications” Inhibiting connective tissue sheath contraction may improve hair growth in male pattern baldness.
21 citations
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November 2009 in “Dermatologic Clinics” The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
3 citations
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January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.
7 citations
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August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
September 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The mTurq2-Col4a1 mouse model shows that cells can divide while attached to stable basement membranes during development.
2 citations
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November 2004 in “Blood” RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
January 2024 in “Revista del Centro Dermatológico Pascua” Avoiding damage and using specific shampoo and supplements improved the hair condition.
3 citations
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January 2021 in “Veterinary dermatology” A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
1 citations
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April 2008 in “Pigment Cell & Melanoma Research” Foxn1 is essential for hair pigmentation by directing pigment transfer to hair cells.
4 citations
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April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
128 citations
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March 1989 in “Experimental Cell Research” Hoxc13 is important for hair and tongue development by controlling hair keratin genes.
January 2017 in “프로그램북(구 초록집)” Iron deficiency anemia can cause hair breakage.
34 citations
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June 1992 in “Journal of Cutaneous Pathology” Harlequin ichthyosis involves abnormal skin cell structures and giant mitochondria, affecting skin and hair.
2 citations
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January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
12 citations
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January 2013 in “Indian dermatology online journal” The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
25 citations
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May 2013 in “Journal of mammary gland biology and neoplasia” Hedgehog signaling is crucial for mammary gland development over hair follicles.
January 2025 in “Indian Journal of Paediatric Dermatology” Biopsy is crucial to correctly diagnose granuloma annulare, which can mimic other conditions like alopecia mucinosa.
23 citations
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July 1994 in “Journal of Dermatological Science” Pili torti hair twists due to uneven outer root sheath cell development.
September 2023 in “Journal of the American Academy of Dermatology” BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
25 citations
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January 2004 in “The International Journal of Developmental Biology” Research on skin disorders in humans and mice has improved understanding of hair and skin development.
160 citations
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January 2014 in “Seminars in cell & developmental biology” Early development of hair, teeth, and glands involves specific signaling pathways and cellular interactions.
6 citations
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January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
36 citations
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
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.