Keratin 17 mutations in four families from India with pachyonychia congenita

Agarwala, Manoj Kumar; Salphale, Pankaj; Peter, Dincy; Wilson, Neil; Pulimood, Susanne; Schwartz, Mary E.; Smith, Frances J.D.

doi:10.4103/ijd.ijd_321_16

Cited by 5 publications

(6 citation statements)

References 8 publications

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“…KRT17 is a multifunctional protein and is involved in the regulation of cellular processes, including proliferation, differentiation and inflammation (15). Increasing evidence has suggested that mutations in KRT17 are associated with pachyonychia congenita type 2 (16)(17)(18) and steatocystoma multiplex (19).…”

Section: Introductionmentioning

confidence: 99%

Silencing of keratin 17 by lentivirus‑mediated short hairpin RNA inhibits the proliferation of PANC‑1 human pancreatic cancer cells

et al. 2020

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, KRT17 knockdown inhibited in vivo tumor growth. KRT17 knockdown induced dysregulation of ERK1/2 and upregulation of the pro-apoptotic Bcl-2 protein Bad. In conclusion, the present study demonstrated that elevated KRT17 levels are positively associated with pancreatic cancer progression; KRT17 knockdown suppressed cell growth, colony formation, migration and tumor growth, and induced apoptosis and cell cycle arrest, affecting ERK1/2/Bad signaling. Therefore, the results of the present study suggested that KRT17 may be a potential target for the treatment of pancreatic cancer.

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Section: Introductionmentioning

confidence: 99%

Silencing of keratin 17 by lentivirus‑mediated short hairpin RNA inhibits the proliferation of PANC‑1 human pancreatic cancer cells

et al. 2020

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“…Within the rod domain, the heptad repeat‐containing segments coils 1A (84–120), 1B (139–230) and 2 (251–392) are interrupted by linker sequences . Genetic mutation in KRT17 that encodes K17 is related to tissue‐specific diseases, represented by steatocystoma multiplex (SM) and pachyonychia congenita (PC) .…”

Section: Introductionmentioning

confidence: 99%

Keratin 17 in disease pathogenesis: from cancer to dermatoses

Yang

Zhang

Wang

2018

The Journal of Pathology

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Keratin 17 (K17) is a type I intermediate filament mainly expressed in the basal cells of epithelia. As a multifaceted cytoskeletal protein, K17 regulates a myriad of biological processes, including cell proliferation and growth, skin inflammation and hair follicle cycling. Aberrant overexpression of K17 is found in various diseases ranging from psoriasis to malignancies such as breast, cervical, oral squamous and gastric carcinomas. Moreover, genetic mutation in KRT17 is related to tissue‐specific diseases, represented by steatocystoma multiplex and pachyonychia congenita. In this review, we summarize our findings concerning the regulatory mechanisms of K17 overexpression in psoriasis and compare them to the literature relating to other diseases. We discuss data that proinflammatory cytokines, including interleukin‐17 (IL‐17), IL‐22, interferon‐gamma (IFN‐γ), transforming growth factor‐beta (TGF‐β) and transcription factors glioma‐associated oncogene homolog 1/2 (Gli1/2), Nrf2 and p53 can regulate K17 by transcriptional and translational control. Moreover, post‐translational modification, including phosphorylation and ubiquitination, is involved in the regulation of K17 stability and biological functions. We therefore review the current understanding of the K17 regulatory mechanism and its pathogenic role in diseases from dermatoses to cancer. Prospects for anti‐K17 therapy in diagnosis, prognosis and disease treatment are also discussed. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

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“…In terms of nail discolorations, the nail color may indicate a secondary nail condition such as onychomycosis (yellow/brown), pseudomonas nail infection (green), or subungual hematoma (dark/brown/black). Nail clippings with histopathology, bacterial cultures, and fungal cultures may be used to diagnose other secondary nail conditions that may be contributing to the discoloration and symptoms, with appropriate treatment prescribed to alleviate these signs and symptoms [56, 57]. Over half of patients reported at least some psychological distress across the different gene groups, and most patients reported negative experiences during childhood and adolescence.…”

Section: Discussion/conclusionmentioning

confidence: 99%

Distinctions in the Management, Patient Impact, and Clinical Profiles of Pachyonychia Congenita Subtypes

Lipner

2021

Skin Appendage Disord

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Introduction: Pachyonychia congenita (PC) is a rare dermatosis that confers lifelong physical and emotional morbidities in affected patients. However, the clinical findings, treatments, and psychosocial impact of this disease have not been adequately described. The International PC Research Registry (IPCRR), a multinational initiative to collect data on PC patients, has allowed an opportunity to distinguish the salient features of this disease. We aimed to characterize the breadth and extent of nail disease, treatments, and quality of life in PC patients, and to describe any significant differences in clinical presentation or treatment of PC subtypes. Methods: The most recent IPCRR patient survey data consisting of an 857-response questionnaire and a 102-response addendum were analyzed in a retrospective analysis. The survey data were collected as part of a multinational, multicenter initiative and comprise the largest representative population of PC to date. Participants (survey respondents) were included in the study based on questionnaire responses and a genetic confirmation of having a PC subtype. Results: A total of 857 survey responses were collected. Genetic variations among PC subtypes influence nail disease onset and severity of symptoms. Nail disease negatively impacts patients’ emotional health, especially during the adolescent and young adult years. Nail treatment tools vary little in terms of effectiveness and acquired infection rates. Conclusion and Discussion: Patients with different PC subtypes have distinct clinical nail presentations and psychosocial impact. Genetic testing should be used to confirm PC diagnoses. Further characterization of PC, especially the rarer subtypes, may allow for more individualized patient education.

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Keratin 17 mutations in four families from India with pachyonychia congenita

Cited by 5 publications

References 8 publications

Silencing of keratin 17 by lentivirus‑mediated short hairpin RNA inhibits the proliferation of PANC‑1 human pancreatic cancer cells

Silencing of keratin 17 by lentivirus‑mediated short hairpin RNA inhibits the proliferation of PANC‑1 human pancreatic cancer cells

Keratin 17 in disease pathogenesis: from cancer to dermatoses

Distinctions in the Management, Patient Impact, and Clinical Profiles of Pachyonychia Congenita Subtypes

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