Literature DB >> 23865785

Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis.

J W Lee1.   

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Year:  2013        PMID： 23865785     DOI： 10.1111/cge.12238

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


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  5 in total

Review 1.  Notch Signaling in Vascular Smooth Muscle Cells.

Authors:  J T Baeten; B Lilly
Journal:  Adv Pharmacol       Date:  2016-08-26

Review 2.  Therapeutic modulation of Notch signalling--are we there yet?

Authors:  Emma R Andersson; Urban Lendahl
Journal:  Nat Rev Drug Discov       Date:  2014-05       Impact factor: 84.694

3.  Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells.

Authors:  Shin-Ichiro Sekine; Masayuki Kaneko; Masaki Tanaka; Yuhei Ninomiya; Hisaka Kurita; Masatoshi Inden; Megumi Yamada; Yuichi Hayashi; Takashi Inuzuka; Jun Mitsui; Hiroyuki Ishiura; Atsushi Iwata; Hiroto Fujigasaki; Hisamitsu Tamaki; Ryusei Tamaki; Shinsuke Kito; Yoshiharu Taguchi; Kortaro Tanaka; Naoki Atsuta; Gen Sobue; Takayuki Kondo; Haruhisa Inoue; Shoji Tsuji; Isao Hozumi
Journal:  Sci Rep       Date:  2019-04-05       Impact factor: 4.379

4.  Precise detection of a murine germline mutation of the Notch3 gene associated with kyphosis and developmental disorders.

Authors:  Haydee M Torres; Tania Rodezno-Antunes; Ashley VanCleave; Yuxia Cao; Dakota L Callahan; Jennifer J Westendorf; Jianning Tao
Journal:  J Adv Vet Anim Res       Date:  2021-02-05

5.  Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification.

Authors:  Michael Vanlandewijck; Thibaud Lebouvier; Maarja Andaloussi Mäe; Khayrun Nahar; Simone Hornemann; David Kenkel; Sara I Cunha; Johan Lennartsson; Andreas Boss; Carl-Henrik Heldin; Annika Keller; Christer Betsholtz
Journal:  PLoS One       Date:  2015-11-23       Impact factor: 3.240
  5 in total

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