January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.
September 2022 in “Frontiers in genetics” This case study reports a new LAMB3 mutation linked to junctional epidermolysis bullosa with severe urinary tract stenosis, outlining treatment challenges and expanding knowledge of EB-related urological complications.
March 2025 in “Advanced Science” In this study, bioengineered hair germ microspheres made from HME hydrogels promoted hair follicle regeneration in vivo, suggesting a promising approach for hair loss treatment.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
12 citations
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July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
1 citations
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February 2023 in “Actas Urológicas Españolas (English Edition)”
1 citations
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October 2025 in “Iranian journal of pharmaceutical research” This study suggests that geranyl acetate may offer protective, anti-inflammatory, and cytoprotective effects against PPD-induced toxicity in keratinocyte cells, indicating its potential as a plant-derived treatment.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
4 citations
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January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
1 citations
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April 2016 in “Journal of Investigative Dermatology” This study identified that blocking the PTGDR2 receptor in human hair follicles in vitro and in mice reversed the hair growth inhibition caused by PGD2, suggesting a potential approach for treating alopecia.
63 citations
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May 2015 in “PloS one” This study found that GALT5 and GALT2 are redundant enzymes essential for O-glycosylation of AGPs, with mutations leading to significant growth and development defects in plants.
November 2025 in “Journal of Investigative Dermatology” BTNL2 helps protect hair follicles from immune attacks.
July 2020 in “Research Square (Research Square)” This study found that girls with isolated premature thelarche, confirmed by GnRH stimulation test, aged 4-8 years, may have significantly advanced bone age, with obesity and serum IGF-1 and DHEAS levels being key risk factors.
91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” In this study, a novel mutation in the glucocorticoid receptor gene was identified in a young woman, impairing glucocorticoid signaling and leading to generalized glucocorticoid resistance.
12 citations
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January 1987 in “Ophthalmic Paediatrics and Genetics” This report describes a patient with biotinidase deficiency presenting bilateral optic atrophy, and confirms autosomal recessive inheritance through enzyme dosage analysis in the patient and family members.
64 citations
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March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes GPRC5D's unique expression pattern in tissues that produce hard keratin, with retinoic acid inducing its expression in hair bulb cells and affecting keratin gene regulation.
5 citations
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May 2011 in “European Journal of Medical Genetics” This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.
September 2013 in “Helda (University of Helsinki)” This study explored the genetics of inherited developmental defects in dogs and identified novel mutations affecting traits like caudal dysplasia, ectodermal dysplasia, and mucopolysaccharidosis VII, suggesting dogs as models to study human diseases.
22 citations
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August 2022 in “Molecular Metabolism” This study identified a crucial role for epidermal Pgc-1α in regulating NAD+ signaling and influencing skin repair, with its dysfunction contributing to age-related wound healing defects.
January 2026 in “BMC Veterinary Research” The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.
125 citations
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August 2003 in “Development” In this study, mice engineered to express human EGFR showed tissue-specific growth defects and neurodegeneration rescue, but developed severe heart issues and accelerated bone cell differentiation.
10 citations
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January 2020 in “Genes & Diseases” In this study, circ-Smad5 was found to inhibit the proliferation and cell cycle progression of JB6 cells by suppressing Wnt/β-catenin/Lef 1 signaling activation, marking the first report of its function.
January 2017 in “Dermatology Review” This article discusses skin lesions in chronic graft-versus-host disease and highlights the importance of coordinated care between haematologists and dermatologists for effective management; it presents no new clinical results.
33 citations
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May 2015 in “JAMA Dermatology” This study identifies comedonal or cystic fibrofolliculomas as novel diagnostic clues for earlier recognition of Birt-Hogg-Dube syndrome, potentially facilitating timely surveillance of associated systemic complications.
June 2025 in “Bioinformation” This study found that nearly one in four young adults in a dermatology clinic had premature greying of hair, influenced by genetic factors, lifestyle, and micronutrient levels.
November 2024 in “Jurnal Biomedika dan Kesehatan” This study explores premature graying of hair, outlining potential causes such as genetic factors, nutritional deficiencies, and autoimmune disorders, and evaluates various management strategies including nutritional supplements, pharmacotherapy, and addressing underlying conditions.
August 2026 in “European Journal of Pharmacology” July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
6 citations
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January 2004 in “DNA Research” This study identified a nonsense mutation in the Sgkl gene as the cause of defective hair growth in a mutant mouse strain, implicating the SGKL signaling pathway in hair development.
9 citations
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March 2012 in “Experimental dermatology” This meeting report discusses the first symposium on natural gene therapy for skin, preceding the 41st annual meeting of the European Society for Dermatological Research, and reports no new experimental findings.