8 citations
,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” This article discusses a novel mutation in the FERMT1 gene identified in a Spanish family with Kindler’s syndrome but reports no new clinical results.
3 citations
,
April 2020 in “American Journal of Case Reports” This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
September 2016 in “Journal of Dermatological Science” This case report describes the first documented instance of epidermal nevus syndrome caused by a postzygotic KRAS G12C mutation in a three-year-old Japanese girl.
September 2016 in “Journal of Dermatological Science” This study found that P. cornucopiae extract showed antioxidant and protective effects on human skin fibroblasts, suggesting its potential as an antiaging agent by preventing oxidative stress-induced collagen breakdown.
September 2016 in “Journal of Dermatological Science” This study found that epidermal-specific deletion of aPKCλ in mice disrupted hair follicle stem cell quiescence and regeneration, leading to abnormal hair cycling and skin changes.
May 2015 in “Journal of Investigative Dermatology” Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
6 citations
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July 2018 in “Hair transplant forum international” This abstract contains author information and a disclosure regarding the Mohebi Inserter for hair transplantation but provides no new clinical research findings.
19 citations
,
May 2004 in “The American Journal of Dermatopathology” In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.
December 2025 in “Cureus” This case report highlights that scarring alopecia with features of dystrophic epidermolysis bullosa and lichen planopilaris can occur in patients with a COL7A1 mutation, emphasizing the need to recognize concurrent inflammatory causes.
December 2023 in “JCEM case reports” In this study, researchers identified a novel genetic variant in the NR3C1 gene in a mother and her son that predicts a truncated protein, leading to glucocorticoid resistance syndrome with mild hyperandrogenic features, although no clear genotype-phenotype correlation has been established.
June 2020 in “Annals of the Rheumatic Diseases” This observational study concluded that anti-Ku antibodies do not specifically indicate any systemic autoimmune disease or associated clinical phenotype.
April 2015 in “Experimental Dermatology” Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
September 2007 in “Journal of Investigative Dermatology” ANp63 is crucial for skin integrity, new filaggrin gene mutations link to eczema, hair can regrow from non-stem cells, sunburns are increasing, and glucocorticoids help treat skin allergies by affecting immune cells.
6 citations
,
January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
1 citations
,
February 2021 in “Scholars international journal of anatomy and physiology” In a laboratory setting, this study found that overexpression of the FGF5 short form in cultured keratinocytes increased hepatic growth factor gene expression, suggesting a potential role in hair growth.
1540 citations
,
October 2008 in “Fertility and Sterility” This review discusses the definition of polycystic ovary syndrome proposed by the AE-PCOS Society Task Force, emphasizing hyperandrogenism, ovarian dysfunction, and excluding related disorders, while noting potential variations needing more research.
1308 citations
,
March 1998 in “Journal of bone and mineral research” This review discusses the molecular role of the vitamin D receptor in regulating various biological actions such as bone mineralization and reports no new clinical results, highlighting the complexity of vitamin D's function in multiple tissues.
556 citations
,
September 2008 in “Genes & Development” This review summarizes how genetic studies using conditional β-catenin loss- and gain-of-function mice have advanced understanding of canonical Wnt signaling's role in embryonic development, adult stem cell maintenance, and cancer modeling.
411 citations
,
April 2010 in “Gastroenterology” This review explores various theories of colorectal cancer stem cell biology and highlights the need for better identification and targeting of these cells to advance treatment strategies, but reports no new clinical findings.
144 citations
,
August 2019 in “Cells” This review discusses the WNT signaling pathway's involvement in human diseases and highlights recent advances in WNT-related treatments, but it presents no new research findings.
131 citations
,
March 2004 in “The American journal of pathology” This study found that modulating BMP activity in transgenic mice affects the development and characteristics of several ectodermal organs, such as skin, hair, and claws, highlighting a stage-dependent influence on organogenesis.
113 citations
,
March 2018 in “Biological reviews/Biological reviews of the Cambridge Philosophical Society” This review examines the adaptive value and mechanisms of seasonal coat colour moulting in birds and mammals, highlighting the challenge of camouflage mismatch and the necessity for evolutionary adaptation under climate change.
103 citations
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October 2003 in “Birth Defects Research” This review discusses the multifactorial etiology of hypospadias, including genetic predispositions and possible environmental factors, and highlights the need for further studies on genetic and environmental contributions to its increasing prevalence, without presenting new findings.
81 citations
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November 2012 in “Journal of the National Cancer Institute” This study found that FLCN deficiency in mice muscles led to increased mitochondrial biogenesis and a metabolic shift towards oxidative phosphorylation, with a similar advantage observed in FLCN-null kidney cancer cells.
74 citations
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October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.
65 citations
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July 2006 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that overexpression of Hoxc13 in GC13 mouse models affects hair follicle differentiation by interacting with medulla-specific genes, particularly Foxq1, suggesting a regulatory pathway for medulla differentiation.
62 citations
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September 2014 in “PLoS ONE” This study identified distinct human and bacterial protein profiles in sebaceous follicular casts, with acne samples showing proteins linked to inflammation and normal samples showing proteins involved in stress protection.
56 citations
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November 2010 in “Pigment Cell & Melanoma Research” This article discusses the role of neurohormones and neuropeptides in hair follicle pigmentation and outlines promising neuroendocrinological strategies to address greying and damage, but reports no new clinical results.
52 citations
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November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.