Literature DB >> 4106927

Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome.

R N Schimke, W A Horton, C R King.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1971        PMID： 4106927     DOI： 10.1016/s0140-6736(71)90400-4

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


× No keyword cloud information.
  24 in total

1.  Pulmonary embolism--a rare complication of Schimke immunoosseous dysplasia.

Authors:  K Sauerstein; M Schroth; K Amann; J Hoyer; H Singer; A Rauch; J Dötsch
Journal:  Eur J Pediatr       Date:  2006-12-29       Impact factor: 3.183

2.  Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.

Authors:  Alireza Baradaran-Heravi; Kyoung Sang Cho; Bas Tolhuis; Mrinmoy Sanyal; Olena Morozova; Marie Morimoto; Leah I Elizondo; Darren Bridgewater; Joanna Lubieniecka; Kimberly Beirnes; Clara Myung; Danny Leung; Hok Khim Fam; Kunho Choi; Yan Huang; Kira Y Dionis; Jonathan Zonana; Kory Keller; Peter Stenzel; Christy Mayfield; Thomas Lücke; Arend Bokenkamp; Marco A Marra; Maarten van Lohuizen; David B Lewis; Chad Shaw; Cornelius F Boerkoel
Journal:  Hum Mol Genet       Date:  2012-02-28       Impact factor: 6.150

Review 3.  Mucopolysaccharidoses and mucolipidoses.

Authors:  F Van Hoof
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

4.  The HARP-like domain-containing protein AH2/ZRANB3 binds to PCNA and participates in cellular response to replication stress.

Authors:  Jingsong Yuan; Gargi Ghosal; Junjie Chen
Journal:  Mol Cell       Date:  2012-06-14       Impact factor: 17.970

5.  Membranous nephropathy in Schimke immuno-osseous dysplasia.

Authors:  Nihal Ozdemir; Harika Alpay; Abdullah Bereket; Gamze Bereket; Neşe Biyikli; Metin Aydoğan; Fulya Cakalağoğlu; Işin Kiliçaslan; Ihsan Akpinar
Journal:  Pediatr Nephrol       Date:  2006-03-29       Impact factor: 3.714

6.  Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia.

Authors:  Marie Morimoto; Kunho Choi; Cornelius F Boerkoel; Kyoung Sang Cho
Journal:  Nucleus       Date:  2016-11       Impact factor: 4.197

7.  SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

Authors:  Alireza Baradaran-Heravi; Anja Raams; Joanna Lubieniecka; Kyoung Sang Cho; Kristi A DeHaai; Mitra Basiratnia; Pierre-Olivier Mari; Yutong Xue; Michael Rauth; Ann Haskins Olney; Mary Shago; Kunho Choi; Rosanna A Weksberg; Malgorzata J M Nowaczyk; Weidong Wang; Nicolaas G J Jaspers; Cornelius F Boerkoel
Journal:  Am J Med Genet A       Date:  2012-08-07       Impact factor: 2.802

8.  Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.

Authors:  Alireza Baradaran-Heravi; Christian Thiel; Anita Rauch; Martin Zenker; Cornelius F Boerkoel; Ilkka Kaitila
Journal:  Am J Med Genet A       Date:  2008-08-01       Impact factor: 2.802

9.  Generalized atherosclerosis sparing the transplanted kidney in Schimke disease.

Authors:  Thomas Lücke; Katja M Marwedel; Nele K Kanzelmeyer; Akira Hori; Gisela Offner; Hans-Heinrich Kreipe; Jochen H H Ehrich; Anibh M Das
Journal:  Pediatr Nephrol       Date:  2004-03-31       Impact factor: 3.714

10.  Schimke immunoosseous dysplasia: defining skeletal features.

Authors:  Kshamta B Hunter; Thomas Lücke; Jürgen Spranger; Sarah F Smithson; Harika Alpay; Jean-Luc André; Yumi Asakura; Radovan Bogdanovic; Dominique Bonneau; Robyn Cairns; Karlien Cransberg; Stefan Fründ; Helen Fryssira; David Goodman; Knut Helmke; Barbara Hinkelmann; Guiliana Lama; Petra Lamfers; Chantal Loirat; Silvia Majore; Christy Mayfield; Bertram F Pontz; Cristina Rusu; Jorge M Saraiva; Beate Schmidt; Lawrence Shoemaker; Sabine Sigaudy; Natasa Stajic; Doris Taha; Cornelius F Boerkoel
Journal:  Eur J Pediatr       Date:  2009-12-15       Impact factor: 3.183
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.