Literature DB >> 11484156

Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).

K Kosaki, N Shimasaki, H Fukushima, M Hara, T Ogata, N Matsuo.   

Abstract

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Mesh：

Year:  2001        PMID： 11484156      PMCID： PMC1235496          DOI： 10.1086/323003

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  6 in total

1.  Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2.

Authors:  J E Parrish; A E Scheuerle; R A Lewis; M L Levy; D L Nelson
Journal:  Hum Mol Genet       Date:  1996-11       Impact factor: 6.150

Review 2.  Incontinentia pigmenti (Bloch-Sulzberger syndrome).

Authors:  S J Landy; D Donnai
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

3.  A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).

Authors:  J Zonana; M E Elder; L C Schneider; S J Orlow; C Moss; M Golabi; S K Shapira; P A Farndon; D W Wara; S A Emmal; B M Ferguson
Journal:  Am J Hum Genet       Date:  2000-10-24       Impact factor: 11.025

4.  Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).

Authors:  S Aradhya; G Courtois; A Rajkovic; R A Lewis; M Levy; A Israël; D L Nelson
Journal:  Am J Hum Genet       Date:  2001-02-08       Impact factor: 11.025

5.  Familial linear and whorled nevoid hypermelanosis.

Authors:  M Akiyama; A Aranami; Y Sasaki; T Ebihara; M Sugiura
Journal:  J Am Acad Dermatol       Date:  1994-05       Impact factor: 11.527

6.  Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

Authors:  A Smahi; G Courtois; P Vabres; S Yamaoka; S Heuertz; A Munnich; A Israël; N S Heiss; S M Klauck; P Kioschis; S Wiemann; A Poustka; T Esposito; T Bardaro; F Gianfrancesco; A Ciccodicola; M D'Urso; H Woffendin; T Jakins; D Donnai; H Stewart; S J Kenwrick; S Aradhya; T Yamagata; M Levy; R A Lewis; D L Nelson
Journal:  Nature       Date:  2000-05-25       Impact factor: 49.962
  6 in total
  8 in total

1.  Mutation identification in a canine model of X-linked ectodermal dysplasia.

Authors:  Margret L Casal; Jennifer L Scheidt; James L Rhodes; Paula S Henthorn; Petra Werner
Journal:  Mamm Genome       Date:  2005-07       Impact factor: 2.957

2.  Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.

Authors:  Hidenori Ohnishi; Yuka Kishimoto; Tomohide Taguchi; Norio Kawamoto; Mina Nakama; Tomoki Kawai; Manabu Nakayama; Osamu Ohara; Kenji Orii; Toshiyuki Fukao
Journal:  J Clin Immunol       Date:  2017-07-12       Impact factor: 8.317

3.  NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.

Authors:  Magali Audry; Michael Ciancanelli; Kun Yang; Aurelie Cobat; Huey-Hsuan Chang; Vanessa Sancho-Shimizu; Lazaro Lorenzo; Tim Niehues; Janine Reichenbach; Xiao-Xia Li; Alain Israel; Laurent Abel; Jean-Laurent Casanova; Shen-Ying Zhang; Emmanuelle Jouanguy; Anne Puel
Journal:  J Allergy Clin Immunol       Date:  2011-07-01       Impact factor: 10.793

Review 4.  Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.

Authors:  Jacinta Bustamante; Capucine Picard; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Journal:  Ann N Y Acad Sci       Date:  2011-12       Impact factor: 5.691

5.  A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.

Authors:  Natalia Martinez-Pomar; Ivan Munoz-Saa; Damian Heine-Suner; Ana Martin; Asma Smahi; Nuria Matamoros
Journal:  Hum Genet       Date:  2005-10-14       Impact factor: 4.132

6.  The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

Authors:  Anne Puel; Janine Reichenbach; Jacinta Bustamante; Cheng-Lung Ku; Jacqueline Feinberg; Rainer Döffinger; Marion Bonnet; Orchidée Filipe-Santos; Ludovic de Beaucoudrey; Anne Durandy; Gerd Horneff; Francesco Novelli; Volker Wahn; Asma Smahi; Alain Israel; Tim Niehues; Jean-Laurent Casanova
Journal:  Am J Hum Genet       Date:  2006-02-15       Impact factor: 11.025

7.  Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.

Authors:  Eric P Hanson; Linda Monaco-Shawver; Laura A Solt; Lisa A Madge; Pinaki P Banerjee; Michael J May; Jordan S Orange
Journal:  J Allergy Clin Immunol       Date:  2008-10-11       Impact factor: 10.793

Review 8.  Targeting NF-κB pathway for the therapy of diseases: mechanism and clinical study.

Authors:  Hui Yu; Liangbin Lin; Zhiqiang Zhang; Huiyuan Zhang; Hongbo Hu
Journal:  Signal Transduct Target Ther       Date:  2020-09-21
  8 in total

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