34 citations
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July 2006 in “The Journal of Comparative Neurology” Increasing neurotrophin 4 in skin boosts nerve endings but not sensory neuron count.
7 citations
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January 2020 in “Dermatology online journal” An adult with a rare skin condition improved with tazarotene treatment.
The naked mutation in mice causes hair loss and helps identify keratin genes.
49 citations
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January 2006 in “Developmental Dynamics” Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
February 2024 in “Journal of Investigative Dermatology” Deleting NIPP1 in mouse skin cells causes early aging and chronic skin issues.
January 2021 in “Electronic Theses of LMU Munich (Ludwig-Maximilians-Universität München)” N-Cadherin is crucial in scar formation, offering potential for scar prevention therapies.
4 citations
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April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
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.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
12 citations
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December 2020 in “Archives animal breeding/Archiv für Tierzucht” EDA and EDAR are important for hair follicle development in cashmere goats and affect other related genes.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
28 citations
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October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
21 citations
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December 2016 in “European journal of pharmaceutics and biopharmaceutics” Nano-sized lipid particles increase dexamethasone's skin penetration and create a reservoir in the skin layers.
2 citations
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March 2023 in “Frontiers in Medicine” Proper cleansing can resolve dermatosis neglecta, which may indicate underlying psychiatric issues.
IVIG and dupilumab effectively improved symptoms in a child with Netherton syndrome.
December 2025 in “Clinical Case Reports” Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
Mutations in specific genes cause different types of ectodermal dysplasias.
30 citations
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June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
37 citations
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January 2010 in “Journal of Clinical Investigation” N-WASP is essential for normal hair growth in mice.
1 citations
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March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” NAC1 controls certain enzymes that reduce root hair growth in Arabidopsis.
211 citations
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October 2001 in “The FASEB Journal” Noggin is necessary to start the hair growth phase in skin after birth.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
372 citations
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December 2004 in “Nature Genetics”
10 citations
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August 2020 in “Drug metabolism and drug interactions” The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
25 citations
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February 2021 in “Diabetes” Dock5 is important for skin healing and could help treat diabetic wounds.
7 citations
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January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” NIPP1 is important for healthy skin and could help treat skin inflammation.
April 2021 in “Journal of Investigative Dermatology” A deep learning model was developed to help diagnose trichothiodystrophy by analyzing hair patterns.
February 2010 in “Journal of the American Academy of Dermatology” Umbilical cord blood transplantation improved the boy's symptoms despite complications.