Publications:

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KIT Gene Mutation Causing Piebaldism Associated with Multiple Café Au-Lait Like Macules and Freckling: Delineating a Cause of this Coexistence.

Indian Dermatology Online Journal

Hegde, Shibhani S SS; Srinivas, Sahana M SM; Nanjundappa, Nijaguna N

Publication Date: 2023

Variant appearance in text: KIT: Gly610Asp

PubMed Link: 37089832

Variant Present in the following documents:

• IDOJ-14-240.pdf

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Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications

Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L

Publication Date: 2022-03-10

Variant appearance in text: KIT: 1829G>A; G610D

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: KIT: G610D

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Piebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation.

Jaad Case Reports

Nagaputra, Jerry C JC; Koh, Mark J A MJA; Brett, Maggie M; Lim, Eileen C P ECP; Lim, Hwee-Woon HW; Tan, Ene-Choo EC

Publication Date: 2018-05

Variant appearance in text: KIT: Gly610Asp

PubMed Link: 29693058

Variant Present in the following documents:

• Main text
• main.pdf

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Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).

Molecular Medicine Reports

Zhang, Jia J; Li, Ming M; Yao, Zhirong Z

Publication Date: 2016-11

Variant appearance in text: KIT: Gly610Asp

PubMed Link: 27666661

Variant Present in the following documents:

• Main text
• mmr-14-05-4023.pdf

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: KIT: G610D

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling.

Therapeutics And Clinical Risk Management

Jia, Wei-Xue WX; Xiao, Xue-Min XM; Wu, Jian-Bing JB; Ma, Yi-Ping YP; Ge, Yi-Ping YP; Li, Qi Q; Mao, Qiu-Xia QX; Li, Cheng-Rang CR

Publication Date: 2015

Variant appearance in text: KIT: G610D

PubMed Link: 25960657

Variant Present in the following documents:

• Main text
• tcrm-11-635.pdf

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Association of Piebaldism, multiple café-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1).

Pediatric Dermatology

Chiu, Yvonne E YE; Dugan, Stefanie S; Basel, Donald D; Siegel, Dawn H DH

Publication Date: 2013

Variant appearance in text: KIT: G610D

PubMed Link: 23016555

Variant Present in the following documents:

• Main text

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