Publications:

---

The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: KRT10: R156C

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Proceedings of the 33rd Congress of the Italian Society of Neonatology, Lombardy Section, 31 January - 1 February 2020 : Bergamo, Italy. 31 January-01 February 2020.

Italian Journal Of Pediatrics

Publication Date: 2020-12-29

Variant appearance in text: KRT10: 466C>T

PubMed Link: 33371888

Variant Present in the following documents:

• Main text
• 13052_2020_Article_934.pdf

View BVdb publication page

---

Multiscale modeling of keratin, collagen, elastin and related human diseases: Perspectives from atomistic to coarse-grained molecular dynamics simulations.

Extreme Mechanics Letters

Yeo, Jingjie J; Jung, GangSeob G; Tarakanova, Anna A; Martín-Martínez, Francisco J FJ; Qin, Zhao Z; Cheng, Yuan Y; Zhang, Yong-Wei YW; Buehler, Markus J MJ

Publication Date: 2018-04

Variant appearance in text: K10: ARG156CYS

PubMed Link: 33344740

Variant Present in the following documents:

• Main text

View BVdb publication page

---

First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.

International Journal Of Molecular Sciences

Diociaiuti, Andrea A; Castiglia, Daniele D; Corbeddu, Marialuisa M; Rotunno, Roberta R; Rossi, Sabrina S; Pisaneschi, Elisa E; Cesario, Claudia C; Condorelli, Angelo Giuseppe AG; Zambruno, Giovanna G; El Hachem, May M

Publication Date: 2020-10-18

Variant appearance in text: K10: 466C>T

PubMed Link: 33081034

Variant Present in the following documents:

• Main text
• ijms-21-07707.pdf

View BVdb publication page

---

Mutations in KRT10 in epidermolytic acanthoma.

Journal Of Cutaneous Pathology

Cheraghlou, Shayan S; Atzmony, Lihi L; Roy, Simon F SF; McNiff, Jennifer M JM; Choate, Keith A KA

Publication Date: 2020-06

Variant appearance in text: KRT10: 466C>T; R156C

PubMed Link: 32045015

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: K10: R156C

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

---

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: KRT10: 466C>T; Arg156Cys

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

---

The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications

Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM

Publication Date: 2018-09-10

Variant appearance in text: KRT10: 466C>T; R156C

PubMed Link: 30202019

Variant Present in the following documents:

• 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Revertant mosaicism in genodermatoses.

Cellular And Molecular Life Sciences : Cmls

Lim, Young H YH; Fisher, Jonathan M JM; Choate, Keith A KA

Publication Date: 2017-06

Variant appearance in text: KRT10: Arg156Cys

PubMed Link: 28168442

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

Orphanet Journal Of Rare Diseases

Diociaiuti, Andrea A; El Hachem, May M; Pisaneschi, Elisa E; Giancristoforo, Simona S; Genovese, Silvia S; Sirleto, Pietro P; Boldrini, Renata R; Angioni, Adriano A

Publication Date: 2016-01-13

Variant appearance in text: KRT10: R156C

PubMed Link: 26762237

Variant Present in the following documents:

• Main text
• 13023_2016_Article_384.pdf

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KRT10: R156C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

---

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: KRT10: R156C

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 5

View BVdb publication page

---