Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

British Journal of Dermatology, Journal Year: 2020, Volume and Issue: 183(4), P. 614 - 627

Published: Feb. 4, 2020

Several new genes and clinical subtypes have been identified since the publication in 2014 of report last International Consensus Meeting on Epidermolysis Bullosa (EB). We sought to reclassify disorders with skin fragility, a focus EB, based molecular data. This was consensus expert review. In this latest report, we introduce concept genetic which classical EB represents prototype. Other where blisters are minor part picture or not seen because cleavage is very superficial, classified as separate categories. These include peeling disorders, erosive hyperkeratotic connective tissue fragility. Because common manifestation these 'EB‐related' should be considered under umbrella terms medical socioeconomic provision care. The proposed classification scheme value both clinicians researchers, emphasizing features EB. What already known about topic? bullosa (EB) group blistering. updated recommendations diagnosis were published 2014. does study add? Clinical aspects, genotype–phenotype correlations, disease‐modifying factors natural history reviewed. e.g. fragility categories; Linked Comment:Pope. Br J Dermatol 2020; 183:603.

Language: Английский

---

Genome-Scale Imaging of the 3D Organization and Transcriptional Activity of Chromatin

Cell, Journal Year: 2020, Volume and Issue: 182(6), P. 1641 - 1659.e26

Published: Aug. 20, 2020

Language: Английский

---

Diet and depression: exploring the biological mechanisms of action

Molecular Psychiatry, Journal Year: 2020, Volume and Issue: 26(1), P. 134 - 150

Published: Nov. 3, 2020

Language: Английский

---

Molecular mechanisms of transgenerational epigenetic inheritance

Nature Reviews Genetics, Journal Year: 2022, Volume and Issue: 23(6), P. 325 - 341

Published: Jan. 4, 2022

Language: Английский

---

The evolving metabolic landscape of chromatin biology and epigenetics

Nature Reviews Genetics, Journal Year: 2020, Volume and Issue: 21(12), P. 737 - 753

Published: Sept. 9, 2020

Language: Английский

---

CRISPR technologies for precise epigenome editing

Nature Cell Biology, Journal Year: 2021, Volume and Issue: 23(1), P. 11 - 22

Published: Jan. 1, 2021

Language: Английский

---

The roles of histone variants in fine-tuning chromatin organization and function

Nature Reviews Molecular Cell Biology, Journal Year: 2020, Volume and Issue: 21(9), P. 522 - 541

Published: July 14, 2020

Language: Английский

---

Metabolism of Amino Acids in Cancer

Frontiers in Cell and Developmental Biology, Journal Year: 2021, Volume and Issue: 8

Published: Jan. 12, 2021

Metabolic reprogramming has been widely recognized as a hallmark of malignancy. The uptake and metabolism amino acids are aberrantly upregulated in many cancers that display addiction to particular acids. Amino facilitate the survival proliferation cancer cells under genotoxic, oxidative, nutritional stress. Thus, targeting acid is becoming potential therapeutic strategy for patients. In this review, we will systematically summarize recent progress malignancy discuss their interconnection with mammalian target rapamycin complex 1 (mTORC1) signaling, epigenetic modification, tumor growth immunity, ferroptosis. Finally, highlight applications.

Language: Английский

---

Prenatal androgen exposure and transgenerational susceptibility to polycystic ovary syndrome

Nature Medicine, Journal Year: 2019, Volume and Issue: 25(12), P. 1894 - 1904

Published: Dec. 1, 2019

Language: Английский

---

Cancer Epigenetics, Tumor Immunity, and Immunotherapy

Trends in cancer, Journal Year: 2020, Volume and Issue: 6(7), P. 580 - 592

Published: March 31, 2020

Language: Английский

---