Literature DB >> 16863530

Prolidase deficiency associated with hemoglobin O trait and microcytic anemia.

Ayse Ferzan Aytug, Tulin Ergun, Siret Ratip, Nursel Elcioglu, Mustafa Gultepe, Ethem Mercan, Oya Gurbuz.   

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Year:  2006        PMID： 16863530     DOI： 10.1111/j.1365-4632.2006.02690.x

Source DB:  PubMed          Journal:  Int J Dermatol        ISSN： 0011-9059            Impact factor:   2.736


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  4 in total

1.  Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.

Authors:  A Lupi; A Rossi; E Campari; F Pecora; A M Lund; N H Elcioglu; M Gultepe; M Di Rocco; G Cetta; A Forlino
Journal:  J Med Genet       Date:  2006-12       Impact factor: 6.318

2.  Prolidase directly binds and activates epidermal growth factor receptor and stimulates downstream signaling.

Authors:  Lu Yang; Yun Li; Yi Ding; Kyoung-Soo Choi; A Latif Kazim; Yuesheng Zhang
Journal:  J Biol Chem       Date:  2012-12-04       Impact factor: 5.157

3.  Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion.

Authors:  Jonathan P Hintze; Amelia Kirby; Erin Torti; Jacqueline R Batanian
Journal:  Mol Syndromol       Date:  2016-04-14

4.  Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.

Authors:  Francis Rossignol; Marvid S Duarte Moreno; Carlos R Ferreira; Manuel Schiff; Jean-François Benoist; Manfred Boehm; Emmanuelle Bourrat; Aline Cano; Brigitte Chabrol; Claudine Cosson; José Luís Dapena Díaz; Arthur D'Harlingue; David Dimmock; Alexandra F Freeman; María Tallón García; Cheryl Garganta; Tobias Goerge; Sara S Halbach; Jan de Laffolie; Christina T Lam; Ludovic Martin; Esmeralda Martins; Andrea Meinhardt; Isabelle Melki; Amanda K Ombrello; Noémie Pérez; Dulce Quelhas; Anna Scott; Anne M Slavotinek; Ana Rita Soares; Sarah L Stein; Kira Süßmuth; Jenny Thies
Journal:  Genet Med       Date:  2021-05-26       Impact factor: 8.822
  4 in total

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