Literature DB >> 21210781

Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan.

K Nagao, K Fujii, K Saito, K Sugita, M Endo, T Motojima, H Hatsuse, T Miyashita.   

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Year:  2011        PMID： 21210781     DOI： 10.1111/j.1399-0004.2010.01527.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  7 in total

1.  Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.

Authors:  Katsunori Fujii; Hirofumi Ohashi; Maiko Suzuki; Hiromi Hatsuse; Tadashi Shiohama; Hideki Uchikawa; Toshiyuki Miyashita
Journal:  Fam Cancer       Date:  2013-12       Impact factor: 2.375

Review 2.  Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones.

Authors:  Francesco Spadari; Federica Pulicari; Matteo Pellegrini; Andrea Scribante; Umberto Garagiola
Journal:  Maxillofac Plast Reconstr Surg       Date:  2022-07-18

3.  PTCH1-null induced pluripotent stem cells exclusively differentiate into immature ectodermal cells with large areas of medulloblastoma-like tissue.

Authors:  Kazuaki Nagao; Chise Kato; Yu Ikemoto; Toshino Motojima; Katsunori Fujii; Akihiro Umezawa; Toshiyuki Miyashita
Journal:  Discov Oncol       Date:  2022-05-27

4.  Gorlin syndrome-induced pluripotent stem cells form medulloblastoma with loss of heterozygosity in PTCH1.

Authors:  Yu Ikemoto; Toshiyuki Miyashita; Michiyo Nasu; Hiromi Hatsuse; Kazuhiro Kajiwara; Katsunori Fujii; Toshino Motojima; Ibuki Kokido; Masashi Toyoda; Akihiro Umezawa
Journal:  Aging (Albany NY)       Date:  2020-05-21       Impact factor: 5.682

5.  CNspector: a web-based tool for visualisation and clinical diagnosis of copy number variation from next generation sequencing.

Authors:  John F Markham; Satwica Yerneni; Georgina L Ryland; Huei San Leong; Andrew Fellowes; Ella R Thompson; Wasanthi De Silva; Amit Kumar; Richard Lupat; Jason Li; Jason Ellul; Stephen Fox; Michael Dickinson; Anthony T Papenfuss; Piers Blombery
Journal:  Sci Rep       Date:  2019-04-23       Impact factor: 4.379

6.  Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization.

Authors:  Nina B Gold; Ian M Campbell; Sarah E Sheppard; Wen-Hann Tan
Journal:  Sci Rep       Date:  2021-10-05       Impact factor: 4.379

7.  Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome.

Authors:  Kei-ichi Morita; Takuya Naruto; Kousuke Tanimoto; Chisato Yasukawa; Yu Oikawa; Kiyoshi Masuda; Issei Imoto; Johji Inazawa; Ken Omura; Hiroyuki Harada
Journal:  PLoS One       Date:  2015-11-06       Impact factor: 3.240
  7 in total

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