9 citations
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June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.
2 citations
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August 2021 in “Animal Cells and Systems” This study suggests that egfl6 expression in the pharyngeal pouches is not essential for craniofacial development in zebrafish.
2 citations
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July 2021 in “Genes” This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
December 2025 in “Journal of Clinical Medicine” In this case study, the researchers reported that surgical debridement combined with targeted dermatological and antimicrobial therapy effectively managed chronic lower-limb wounds in a patient with keratitis-ichthyosis-deafness syndrome, underscoring the importance of a multidisciplinary approach in treating this rare condition.
March 2025 in “International Journal of Trichology” In this case report, researchers described a treatment for post-aplasia cutis congenita alopecia using follicular unit transplantation, platelet-rich plasma, and fat grafting, which significantly improved hair follicles, skin quality, and sensitivity in the affected scalp area.
May 2024 in “International journal of surgery case reports” In this case report, an 18-year-old male with an oral epidermoid cyst experienced trouble swallowing and respiratory distress, but recovered well following surgical removal of the cyst.
August 2022 in “Journal of Comprehensive Pediatrics” This case report describes a 15-year-old girl with trichorhinophalangeal syndrome type 1 and a rare non-ossifying fibroma in her femur, suggesting a potential link between the genetic condition and bone lesions.
July 2022 in “Indian Journal of Otology” This case report presents a very rare instance of pilonidal sinus in the preauricular region, marking only the second known case documented in medical literature.
This abstract compiles a list of medical syndromes and conditions related to tongue abnormalities and other systemic features but reports no new research findings.
42 citations
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July 2021 in “Frontiers in Cell and Developmental Biology” This review examines the regeneration capabilities of skin, oesophagus, and oral mucosa, highlighting the oral mucosa's unique scarless healing properties and the potential of cell therapy to improve scar reduction in wound healing.
38 citations
,
December 2006 in “Journal of Investigative Dermatology” Keratin patterns in hair follicles help understand hair growth and potential hair and nail disorders.
22 citations
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January 2009 in “Advances in experimental medicine and biology” This review discusses the human Nude/SCID phenotype and FOXN1 gene's role in immunological disorders affecting T-cell development but reports no new clinical findings.
18 citations
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May 2023 in “Science Advances” In this study, transiently activating the sonic hedgehog signaling pathway in chickens transformed reticulate scales on the feet into feathers comparable to body feathers, without ongoing treatment, suggesting this pathway affects the diversity of bird skin appendages.
5 citations
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February 2014 in “PloS one” This study reports differential gene expression in the leading edge and inner surface epithelial cells of murine eyelids, suggesting that distinct signaling pathways are active during embryonic eyelid closure.
1 citations
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October 2023 in “Frontiers in Oncology” This study presented cases where potentially significant germline variants were unexpectedly found during genomic profiling for myeloid malignancies, discussing the challenges in genetic counseling and management, especially when variants don't match the patient's condition.
1 citations
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June 2023 in “Medicina” In this study, all 26 patients with epidermolysis bullosa were found to have extensive dental caries, with various dental and oral complications varying by EB type, due in part to inadequate oral care and associated physical limitations.
April 2025 in “Frontiers in Animal Science” In this study, researchers found that circulating exosomes from different sheep breeds can significantly alter hair growth in mice, with the source of exosomes influencing hair follicle size and hair diameter, as well as expression of specific hair growth and melanin synthesis markers.
112 citations
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January 2004 in “The International journal of developmental biology” This study found that feather patterning is primarily self-organizing and dynamic, relying on both genetic and epigenetic controls, with implications for similar processes like fingerprints and pigmentation.
92 citations
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April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
88 citations
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June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” This article reviews IFAP syndrome, an X-linked genetic disorder characterized by ichthyosis follicularis, alopecia, and photophobia, and reports no new clinical findings.
40 citations
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November 2021 in “International Journal of Molecular Sciences” This review highlights the role of keratin mutations in epidermolysis bullosa simplex and the resulting chronic inflammation, but it presents no new experimental findings.
33 citations
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August 2008 in “American Journal Of Pathology” This study found that K6a expression in mouse sebaceous gland ducts correlates with Hedgehog signaling, suggesting a role in duct fate.
31 citations
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September 2012 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that proper levels of retinoic acid, controlled by the enzyme Cyp26b1, are essential for normal hair follicle development and morphogenesis in mice.
22 citations
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August 2020 in “Cells” This review discusses the role of TGM3 in skin and hair follicle biology, human tumor pathology, and genetic abnormalities, and reports no novel results; the authors highlight its potential as a cancer diagnostic biomarker.
20 citations
,
November 2014 in “Developmental Dynamics” This review explores the similarities between wound healing, palatogenesis, and orofacial clefting, suggesting these processes share common pathways and genetic regulatory mechanisms, but reports no new experimental results.
12 citations
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August 2007 in “Human Molecular Genetics” This study found that Lymphotoxin-beta primarily influences periderm differentiation, impacting epidermal and hair follicle differentiation at later stages.
8 citations
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March 2023 in “British Journal of Dermatology” This review highlights the significant role of next-generation sequencing in uncovering the genetic basis of hair disorders, identifying 28 nonsyndromic conditions linked to specific genes.