Literature DB >> 36050428

SGPL1 Deficiency: Nephrotic Syndrome with Lymphopenia.

Paulina Tran1,2, Mahnaz Jamee3,4, Zahra Pournasiri3, Zahra Chavoshzadeh4, Kathleen E Sullivan5,6.   

Abstract

Entities:  

Year:  2022        PMID: 36050428     DOI: 10.1007/s10875-022-01348-9

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN: 0271-9142            Impact factor:   8.542


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  5 in total

1.  Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

Authors:  Svjetlana Lovric; Sara Goncalves; Heon Yung Gee; Babak Oskouian; Honnappa Srinivas; Won-Il Choi; Shirlee Shril; Shazia Ashraf; Weizhen Tan; Jia Rao; Merlin Airik; David Schapiro; Daniela A Braun; Carolin E Sadowski; Eugen Widmeier; Tilman Jobst-Schwan; Johanna Magdalena Schmidt; Vladimir Girik; Guido Capitani; Jung H Suh; Noëlle Lachaussée; Christelle Arrondel; Julie Patat; Olivier Gribouval; Monica Furlano; Olivia Boyer; Alain Schmitt; Vincent Vuiblet; Seema Hashmi; Rainer Wilcken; Francois P Bernier; A Micheil Innes; Jillian S Parboosingh; Ryan E Lamont; Julian P Midgley; Nicola Wright; Jacek Majewski; Martin Zenker; Franz Schaefer; Navina Kuss; Johann Greil; Thomas Giese; Klaus Schwarz; Vilain Catheline; Denny Schanze; Ingolf Franke; Yves Sznajer; Anne S Truant; Brigitte Adams; Julie Désir; Ronald Biemann; York Pei; Elisabet Ars; Nuria Lloberas; Alvaro Madrid; Vikas R Dharnidharka; Anne M Connolly; Marcia C Willing; Megan A Cooper; Richard P Lifton; Matias Simons; Howard Riezman; Corinne Antignac; Julie D Saba; Friedhelm Hildebrandt
Journal:  J Clin Invest       Date:  2017-02-06       Impact factor: 14.808

Review 2.  Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia.

Authors:  Soma Jyonouchi; Artemio M Jongco; Jennifer Puck; Kathleen E Sullivan
Journal:  J Clin Immunol       Date:  2017-03-28       Impact factor: 8.317

3.  Dendritic cell sphingosine-1-phosphate lyase regulates thymic egress.

Authors:  Jesus Zamora-Pineda; Ashok Kumar; Jung H Suh; Meng Zhang; Julie D Saba
Journal:  J Exp Med       Date:  2016-10-17       Impact factor: 14.307

Review 4.  Genotype/Phenotype Interactions and First Steps Toward Targeted Therapy for Sphingosine Phosphate Lyase Insufficiency Syndrome.

Authors:  Julie D Saba; Nancy Keller; Jen-Yeu Wang; Felicia Tang; Avi Slavin; Yizhuo Shen
Journal:  Cell Biochem Biophys       Date:  2021-06-16       Impact factor: 2.194

5.  Incomplete inhibition of sphingosine 1-phosphate lyase modulates immune system function yet prevents early lethality and non-lymphoid lesions.

Authors:  Peter Vogel; Michael S Donoviel; Robert Read; Gwenn M Hansen; Jill Hazlewood; Stephen J Anderson; Weimei Sun; Jonathan Swaffield; Tamas Oravecz
Journal:  PLoS One       Date:  2009-01-01       Impact factor: 3.240

  5 in total

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