Literature DB >> 20331448

Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis.

G Y El-Kamah, K Fong, M El-Ruby, H H Afifi, S E Clements, J E Lai-Cheong, K Amr, M El-Darouti, J A McGrath.   

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Year:  2010        PMID： 20331448     DOI： 10.1111/j.1365-2133.2010.09769.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  18 in total

1.  Infantile Systemic Hyalinosis with Mutation in ANTXR2.

Authors:  Dhanya Lakshmi Narayanan; Shubha R Phadke
Journal:  Indian J Pediatr       Date:  2016-01-25       Impact factor: 1.967

2.  Analysis of mutations in the SOS-1 gene in two Polish families with hereditary gingival fibromatosis.

Authors:  K Gawron; G Bereta; Z Nowakowska; K Łazarz-Bartyzel; J Potempa; M Chomyszyn-Gajewska; R Górska; P Plakwicz
Journal:  Oral Dis       Date:  2017-05-22       Impact factor: 3.511

3.  Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.

Authors:  Rafael Denadai; Cassio E Raposo-Amaral; Débora Bertola; Chong Kim; Nivaldo Alonso; Thomas Hart; Sangwoo Han; Rafael F Stelini; Celso L Buzzo; Cesar A Raposo-Amaral; P Suzanne Hart
Journal:  Am J Med Genet A       Date:  2012-03-01       Impact factor: 2.802

Review 4.  The dark sides of capillary morphogenesis gene 2.

Authors:  Julie Deuquet; Ekkehart Lausch; Andrea Superti-Furga; F Gisou van der Goot
Journal:  EMBO J       Date:  2011-12-06       Impact factor: 11.598

Review 5.  Gingival enlargements: Differential diagnosis and review of literature.

Authors:  Amit Arvind Agrawal
Journal:  World J Clin Cases       Date:  2015-09-16       Impact factor: 1.337

6.  Infantile systemic hyalinosis: a case report with a novel mutation.

Authors:  Siham Al Sinani; Fathyia Al Murshedy; Reem Abdwani
Journal:  Oman Med J       Date:  2013-01

7.  Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among "Malis (Farmers)" in Jodhpur.

Authors:  Jai Prakash Soni; Ratna D Puri; Kapil Jetha; G S L Bhavani; Monika Chaudhary; Sudha Kohli; I C Verma
Journal:  Indian J Pediatr       Date:  2016-10-18       Impact factor: 1.967

8.  Infantile systemic hyalinosis: Report of two severe cases from Saudi Arabia and review of the literature.

Authors:  Sahar Ahmed Fathi Hammoudah; Lama Mohammed El-Attar
Journal:  Intractable Rare Dis Res       Date:  2016-05

9.  Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.

Authors:  Julie Deuquet; Ekkehart Lausch; Nicolas Guex; Laurence Abrami; Suzanne Salvi; Asvin Lakkaraju; Maria Celeste M Ramirez; John A Martignetti; Dariusz Rokicki; Luisa Bonafe; Andrea Superti-Furga; Françoise G van der Goot
Journal:  EMBO Mol Med       Date:  2011-02-15       Impact factor: 12.137

10.  Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report.

Authors:  Imane Cherkaoui Jaouad; Soukaina Guaoua; Aicha Hajjioui; Abdelaziz Sefiani
Journal:  J Med Case Rep       Date:  2014-09-03
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