Literature DB >> 28407217

Evolution of the skin manifestations of X-linked pigmentary reticulate disorder.

P Starokadomskyy1, L Sifuentes-Dominguez2, T Gemelli3, A R Zinn1,3, M T Dossi4, C Mellado5, P Bertrand6, A Borzutzky7,8, E Burstein1,9.   

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Year:  2017        PMID： 28407217      PMCID： PMC5640471          DOI： 10.1111/bjd.15586

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


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  10 in total

1.  Reticulate Pigmentation with Systemic Manifestations in a Child.

Authors:  Nilay Duman; Sibel Ersoy-Evans; Özay Gököz
Journal:  Pediatr Dermatol       Date:  2015 Nov-Dec       Impact factor: 1.588

Review 2.  X-linked reticulate pigmentary disorder with systemic manifestations: a new family and review of the literature.

Authors:  Lidia Pezzani; Michela Brena; Michele Callea; Marina Colombi; Gianluca Tadini
Journal:  Am J Med Genet A       Date:  2013-04-23       Impact factor: 2.802

3.  A human inborn error connects the α's.

Authors:  Isabelle Meyts; Jean-Laurent Casanova
Journal:  Nat Immunol       Date:  2016-05       Impact factor: 25.606

Review 4.  X-linked reticulate pigmentary disorder with systemic manifestations: report of a third family and literature review.

Authors:  Robert C Anderson; Andrew R Zinn; June Kim; K Robin Carder
Journal:  Pediatr Dermatol       Date:  2005 Mar-Apr       Impact factor: 1.588

5.  X-linked reticulate pigmentary layer. Report of a new patient and demonstration of a skewed X-inactivation.

Authors:  H Mégarbané; N Boehm; E Chouery; R Bernard; N Salem; E Halaby; N Levy; A Mégarbané
Journal:  Genet Couns       Date:  2005

6.  An X-linked reticulate pigmentary disorder with systemic manifestations: report of a second family.

Authors:  L C Adès; M Rogers; D O Sillence
Journal:  Pediatr Dermatol       Date:  1993-12       Impact factor: 1.588

7.  Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis.

Authors:  A K Gedeon; J C Mulley; H Kozman; A Donnelly; M W Partington
Journal:  Am J Med Genet       Date:  1994-08-01

8.  Familial cutaneous amyloidosis with systemic manifestations in males.

Authors:  M W Partington; P J Marriott; R S Prentice; A Cavaglia; N E Simpson
Journal:  Am J Med Genet       Date:  1981

9.  Cryptogenic multifocal ulcerous stenosing enteritis (CMUSE) in a man with a diagnosis of X-linked reticulate pigmentary disorder (PDR).

Authors:  Guadalupe Fraile; Francesca Norman; Ma Eugenia Reguero; Vicente Defargues; Clara Redondo
Journal:  Scand J Gastroenterol       Date:  2008       Impact factor: 2.423

10.  DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.

Authors:  Petro Starokadomskyy; Terry Gemelli; Jonathan J Rios; Chao Xing; Richard C Wang; Haiying Li; Vladislav Pokatayev; Igor Dozmorov; Shaheen Khan; Naoteru Miyata; Guadalupe Fraile; Prithvi Raj; Zhe Xu; Zigang Xu; Lin Ma; Zhimiao Lin; Huijun Wang; Yong Yang; Dan Ben-Amitai; Naama Orenstein; Huda Mussaffi; Eulalia Baselga; Gianluca Tadini; Eyal Grunebaum; Adrijan Sarajlija; Konrad Krzewski; Edward K Wakeland; Nan Yan; Maria Teresa de la Morena; Andrew R Zinn; Ezra Burstein
Journal:  Nat Immunol       Date:  2016-03-28       Impact factor: 25.606
  10 in total
  4 in total

1.  Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.

Authors:  Hilde Van Esch; Rita Colnaghi; Kathleen Freson; Petro Starokadomskyy; Andreas Zankl; Liesbeth Backx; Iga Abramowicz; Emily Outwin; Luis Rohena; Claire Faulkner; Gary M Leong; Ruth A Newbury-Ecob; Rachel C Challis; Katrin Õunap; Jacques Jaeken; Eve Seuntjens; Koen Devriendt; Ezra Burstein; Karen J Low; Mark O'Driscoll
Journal:  Am J Hum Genet       Date:  2019-04-18       Impact factor: 11.025

2.  X-linked reticulate pigmentary disorder in a 4-year-old boy.

Authors:  Yu-Kun Zhao; Li-Hua Fan; Jing-Fa Lu; Ze-Yu Luo; Zhi-Miao Lin; Hui-Jun Wang; Di-Qing Luo
Journal:  Postepy Dermatol Alergol       Date:  2022-05-09       Impact factor: 1.664

Review 3.  Immune Dysfunction in Mendelian Disorders of POLA1 Deficiency.

Authors:  Petro Starokadomskyy; Andrea Escala Perez-Reyes; Ezra Burstein
Journal:  J Clin Immunol       Date:  2021-01-03       Impact factor: 8.542

4.  NK cell defects in X-linked pigmentary reticulate disorder.

Authors:  Petro Starokadomskyy; Katelynn M Wilton; Konrad Krzewski; Adam Lopez; Luis Sifuentes-Dominguez; Brittany Overlee; Qing Chen; Ann Ray; Aleksandra Gil-Krzewska; Mary Peterson; Lisa N Kinch; Luis Rohena; Eyal Grunebaum; Andrew R Zinn; Nick V Grishin; Daniel D Billadeau; Ezra Burstein
Journal:  JCI Insight       Date:  2019-11-01
  4 in total

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