184 citations
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September 2006 in “PLoS Genetics” This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.
155 citations
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August 2003 in “Journal Of Experimental Zoology Part B: Molecular And Developmental Evolution” This review discusses the conserved molecular mechanisms controlling hair follicle development and cycling and suggests they may also apply to other ectodermal derivatives, like teeth and feathers, but it reports no new results.
76 citations
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May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
2 citations
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February 2021 in “FEBS open bio” In this study, transfection experiments showed that mutations in the K85 gene affect filament formation with K35, which may impact hair formation related to ectodermal dysplasia.
June 2021 in “International journal of research in dermatology” This report describes a child and his father with hereditary hypotrichosis simplex, an uncommon isolated form of hair loss, with no other ectodermal or systemic abnormalities noted.
June 2001 in “European Journal of Dermatology” This case study describes a 54-year-old woman with a rare pattern of asymmetrical hair loss resembling androgenetic alopecia, alongside sparse body hair and near absence of eyebrows and eyelashes, while other ectodermal features were normal.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers mapped gene expression in developing hair follicles to reveal unknown cell populations and markers, suggesting early establishment of cell fates in hair placodes.
April 2012 in “Neuropediatrics” This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.
April 2023 in “Journal of Investigative Dermatology” This study identified ectomesenchyme as a major source of epidermal stem cells in mouse skin, with ectomesenchymal keratinocytes occupying a significant portion of the epidermal stem cell-enriched population.
9 citations
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February 2023 in “Medicine” This review discusses the potential of traditional Chinese medicine to relieve clinical symptoms in cases of CCS and emphasizes the need for further large-scale, long-term studies to verify these effects.
4 citations
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April 2007 in “Journal of Pediatric Gastroenterology and Nutrition” This case report describes a 16-year-old liver transplant patient with previous chicken pox infection experiencing disseminated varicella zoster virus infection with pneumonia, highlighting the importance of early acyclovir treatment in immunocompromised patients.
2 citations
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August 2022 in “World Journal of Clinical Cases” In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.
37 citations
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January 2005 in “Clinics in dermatology” This review discusses recent advances in understanding the genetics of hair and nail disorders and reports no new clinical results.
24 citations
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November 2016 in “Cell death and disease” This review discusses the generation of germ cell-like cells from skin-derived stem cells and reports no new results; the potential for these cells to produce viable progeny remains unclear.
17 citations
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January 1991 in “Acta Dermato Venereologica” This report describes a Danish family with autosomal dominant hypotrichosis, where affected members experienced gradual diffuse hair loss leading to near-total scalp alopecia by ages 14-21.
February 2025 in “Gastroenterology” Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.
October 2024 in “Medicine” In this case report, a 72-year-old female with Cronkhite-Canada syndrome showed significant improvement in symptoms and gastrointestinal polyps after hormone therapy and additional treatment.
January 2022 in “Gastro Hep advances” This case report describes a woman diagnosed with Cronkhite-Canada syndrome whose gastrointestinal symptoms and alopecia improved significantly after systemic prednisone treatment, with no recurrence four years after a second treatment course.
August 2016 in “KU ScholarWorks (The University of Kansas)” This study demonstrated that transplanting in vitro differentiated Wharton's jelly mesenchymal stem cells on acellular dermal grafts led to complete skin regeneration with appendages in a mouse model of full-thickness wounds.
August 2013 in “Gastroenterology” This case report highlights a 60-year-old patient's diagnosis with Cronkhite-Canada syndrome, characterized by gastrointestinal polyps, diarrhea, weight loss, brittle nails, alopecia, and skin changes, which showed improvement with treatment.
May 2012 in “International Journal of Dermatology and Venereology” This article reviews the morphogenesis and cycling of hair follicles and the complex signaling pathways involved, without reporting new experimental results.
58 citations
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July 2005 in “Molecular and Cellular Biology” This study showed that a 2-kilobase upstream region of the mouse keratin 17 gene enables targeted GFP expression in major epithelial appendages of transgenic mice, indicating sonic hedgehog's involvement in its regulation.
16 citations
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September 2006 in “Journal of Cutaneous Pathology” This study found that the p63 transcription factor is expressed during rat epidermal development and may serve as a specific marker for keratinocyte progenitor cells.
158 citations
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January 2009 in “The International Journal of Developmental Biology” This perspective highlights the potential of reptile integument as an experimental model to understand the evolution of amniote skin structures, but reports no new research findings.
73 citations
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June 2017 in “Experimental Dermatology” The authors suggest that tooth, dermal scale, epidermal scale, feather, and hair evolved in parallel from a shared placode/dermal cell unit in an early vertebrate gnathostome with odontodes, around 420 million years ago.
61 citations
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April 1969 in “Archives of Dermatology” This study highlights a case where progressive baldness initially diagnosed as alopecia universalis was attributed to a basal cell hamartoma of each hair follicle, stressing the importance of skin biopsies for unusual alopecia cases.
41 citations
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October 2008 in “The American journal of pathology” This study found that reducing BMP signaling in mouse nipple epithelia, achieved through Noggin overexpression, can convert them into hairy skin with pilosebaceous units.
26 citations
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January 1993 in “Dermatology” This report describes a new case of isolated trichothiodystrophy with characteristic brittle hair and suggests a simplified classification scheme for understanding sulfur-deficient hair disorders.
19 citations
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January 2007 in “Journal of medical investigation” This study found that transplanting GFP transgenic tail skin onto wild-type mice leads to partial replacement of dermis, nerves, and blood vessels by recipient tissue after six months, while epidermis, hair follicles, and sebaceous glands persist from the graft.