63 citations
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April 2005 in “Mechanisms of development” This study found that heterozygous mice overexpressing Claudin-6 experienced alterations in epidermal and hair follicle differentiation, leading to distinctive coat characteristics and a disrupted epidermal permeability barrier.
This review discusses recent advances in polydopamine-based biomaterials and their growing potential in personalized medicine, but reports no new experimental results; the authors highlight both opportunities and challenges for future applications.
47 citations
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July 2005 in “European Journal of Cell Biology” Terrestrial vertebrates have balanced keratin gene clusters, unlike teleost fish.
18 citations
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March 2004 in “The Journal of Urology” In this study, researchers used a hypospadiac rat model to demonstrate abnormal genital development, similar to human penoscrotal hypospadias, highlighting the model's value for studying penile growth and differentiation.
34 citations
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December 1984 in “Journal of Cutaneous Pathology” This study observed that the thinning and structural abnormalities in monilethrix-affected hair occur at the internodes due to possible periodic dysfunction of the hair matrix, particularly in the cortex.
6 citations
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July 2017 in “Clinical and Experimental Dermatology” This report presents four new cases of follicular porokeratosis, which exhibit distinct histological features where the cornoid lamella are confined to the follicular ostia.
5 citations
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February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
September 2024 in “Turkish Journal of Dermatology” In this study, researchers found that males with alopecia areata had a significantly lower 2D to 4D finger length ratio compared to healthy controls, suggesting this ratio might predict alopecia areata development, though it did not correlate with disease severity.
7 citations
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August 2008 in “Cases Journal” This article reports a case of a 14-month-old child with a constriction ring syndrome caused by tightly wrapped hair, highlighting the importance of early recognition and treatment to prevent serious complications.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
3 citations
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September 2022 in “European Journal of Dermatology” This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.
36 citations
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October 2000 in “British Journal of Dermatology” This study identified a distinct gene near the hairless locus on chromosome 8p that is responsible for hereditary Marie Unna type hypotrichosis in a German family.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This case report describes an 8-year-old boy with neurofibromatosis type one presenting with the rare conditions of trichothiodystrophy and retinal atrophy.
478 citations
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September 1996 in “Proceedings of the National Academy of Sciences” This study found that overexpression of PTHrP in mice chondrocytes led to short-limbed dwarfism and delays in endochondral ossification, highlighting PTHrP's role in inhibiting chondrocyte differentiation.
July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
1 citations
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January 2016 in “Medicinski glasnik Specijalne bolnice za bolesti štitaste žlezde i bolesti metabolizma” This article discusses congenital adrenal hyperplasia due to 21 hydroxylase deficiency as a cause of ambiguous genitals in 46XX individuals and reports no new research findings.
April 2020 in “International journal of research in dermatology” This case report presents an 8-year-old girl with congenital atrichia, marked by complete hair loss and papular lesions, linked to mutations in the human hairless gene.
March 2026 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” This case series reports three novel and atypical morphological patterns of alopecia areata, termed the central sparing, paw, and punctate patterns, highlighting their importance for dermatologists in improving diagnosis and management of the condition.
2 citations
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July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
1 citations
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January 2018 in “Jornal Brasileiro de Patologia e Medicina Laboratorial” This case report describes a 10-year-old girl with monilethrix, detailing hereditary autosomal dominant traits and distinctive nodular hair shaft abnormalities observed in her family through clinical examination and microscopic analysis.
4 citations
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January 2017 in “Annals of Dermatology” Frequent hairdryer use may worsen hair fragility in people with Pili Annulati.
4 citations
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January 2025 in “Clinical Cosmetic and Investigational Dermatology” This article reviews the characteristics, differential diagnosis, and management options for papular acantholytic dyskeratosis of the vulva, illustrated by a case of a 21-year-old patient, but reports no new clinical results.
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that the IGF2 gene Apa1 A820G polymorphism is associated with an increased risk of developing PCOS in the studied population.
1 citations
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July 2025 in “BMC Medicine” The authors concluded that establishing and standardizing methods for data collection are crucial to improving PCOS diagnosis and research due to challenges observed in data harmonization across diverse international cohorts.
This study presents a rare instance of Netherton syndrome diagnosed incidentally in siblings of consanguineous parents, initially misdiagnosed as other skin conditions, emphasizing the need for careful evaluation in chronic skin cases to prevent misdiagnosis.
December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is important for periodontal ligament homeostasis under occlusal hypofunction conditions.
December 2024 in “Indian Journal of Dermatology” This case report describes a 3-year-old boy with atrichia with papular lesions, emphasizing that dermoscopy, showing the 'cluster of stars' appearance, facilitated diagnosis without needing a skin biopsy.