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

Journal of Clinical Investigation

Volumn 127, Issue 3, 2017, Pages 912-928

  Lovric, Svjetlana ^a   Goncalves, Sara ^b,c   Gee, Heon Yung ^a,d   Oskouian, Babak ^e   Srinivas, Honnappa ^f   Choi, Won Il ^a   Shril, Shirlee ^a   Ashraf, Shazia ^a   Tan, Weizhen ^a   Rao, Jia ^a   Airik, Merlin ^a   Schapiro, David ^a   Braun, Daniela A ^a   Sadowski, Carolin E ^a   Widmeier, Eugen ^a,g   Jobst Schwan, Tilman ^a   Schmidt, Johanna Magdalena ^a   Girik, Vladimir ^h   Capitani, Guido ⁱ   Suh, Jung H ^e   Lachaussée, Noëlle ^b,c   Arrondel, Christelle ^b,c   Patat, Julie ^b,c   Gribouval, Olivier ^b,c   Furlano, Monica ^b,c,j   Boyer, Olivia ^b,c,k   Schmitt, Alain ^b,l   Vuiblet, Vincent ^m,n   Hashmi, Seema ^o   Wilcken, Rainer ^f   Bernier, Francois P ^p   Innes, A Micheil ^p   Parboosingh, Jillian S ^p   Lamont, Ryan E ^p   Midgley, Julian P ^q   Wright, Nicola ^q   Majewski, Jacek ^r   Zenker, Martin ^s   Schaefer, Franz ^t   Kuss, Navina ^p   Greil, Johann ^u   Giese, Thomas ^v   Schwarz, Klaus ^w   Catheline, Vilain ^x   Schanze, Denny ^s   Franke, Ingolf ^s   Sznajer, Yves ^y   Truant, Anne S ^z   Adams, Brigitte ^aa   Désir, Julie ^x   Biemann, Ronald ^s   Pei, York ^ab   Ars, Elisabet ^j   Lloberas, Nuria ^ac   Madrid, Alvaro ^ad   Dharnidharka, Vikas R ^ae   Connolly, Anne M ^af   Willing, Marcia C ^ag   Cooper, Megan A ^ae   Lifton, Richard P ^ah,ai   Simons, Matias ^b,c   Riezman, Howard ^h   Antignac, Corinne ^b,c,k   Saba, Julie D ^e   Hildebrandt, Friedhelm ^a   more..

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b INSERM   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d Yonsei University College of Medicine   (South Korea)

^e CHILDREN S HOSPITAL OAKLAND   (United States)

^f NOVARTIS PHARMA AG   (Switzerland)

^g UNIVERSITY OF FREIBURG   (Germany)

^h UNIVERSITY OF GENEVA   (Switzerland)

ⁱ PAUL SCHERRER INSTITUTE   (Switzerland)

^j UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^k HÔPITAL NECKER ENFANTS MALADES   (France)

^l CNRS   (France)

^m UFR Sciences Exactes et Naturelles   (France)

ⁿ REIMS UNIVERSITY HOSPITAL   (France)

^o SINDH INSTITUTE OF UROLOGY AND TRANSPLANTATION   (Pakistan)

^p Sindh Institute of Urology and Transplantation ^*  (Germany)

^q UNIVERSITY OF CALGARY   (Canada)

^r MCGILL UNIVERSITY   (Canada)

^s UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^t Division of Pediatric Nephrology   (Germany)

^u Center for Pediatrics and Adolescent Medicine   (Germany)

^v UNIVERSITY OF HEIDELBERG   (Germany)

^w German Red Cross Blood Transfusion Service Baden Württemberg Hessen and University Hospital Ulm   (Germany)

^x ERASME HOSPITAL   (Belgium)

^y CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^z UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^aa HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^ab UNIVERSITY HEALTH NETWORK   (Canada)

^ac HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^ad HOSPITAL MATERNO INFANTIL VALL D HEBRON   (Spain)

^ae WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^af Neuromuscular Division   (United States)

^ag Division of Genetics and Genomic Medicine   (United States)

^ah YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^ai HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PYRIDOXAL 5 PHOSPHATE; SPHINGOSINE 1 PHOSPHATE; DROSOPHILA PROTEIN; LYASE; SPHINGOSINE 1-PHOSPHATE LYASE (ALDOLASE); SPLY PROTEIN, DROSOPHILA;

ACANTHOSIS; ADRENAL INSUFFICIENCY; ARTICLE; CELL CULTURE; CELL MIGRATION; CELLULAR DISTRIBUTION; CONGENITAL NEPHROTIC SYNDROME; CORPUS CALLOSUM AGENESIS; END STAGE RENAL DISEASE; FEMALE; GENETIC TRANSFECTION; HUMAN; HUMAN TISSUE; ICHTHYOSIS; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; LIQUID CHROMATOGRAPHY-MASS SPECTROMETRY; MALE; MOLECULAR CLONING; MUTATION; NEPHROSIS; NEPHROTIC SYNDROME; PHENOTYPE; POLYMERASE CHAIN REACTION; QUESTIONNAIRE; RNA EXTRACTION; RNA SPLICING; WHOLE EXOME SEQUENCING; ANIMAL; CELL LINE; CELL MOTION; DROSOPHILA MELANOGASTER; ENZYMOLOGY; GENETICS; KNOCKOUT MOUSE; LAMELLAR ICHTHYOSIS; MESANGIUM CELL; METABOLISM; MOUSE; PATHOLOGY; PROTEIN TRANSPORT; RAT;

ALDEHYDE-LYASES; ANIMALS; CELL LINE; CELL MOVEMENT; DROSOPHILA MELANOGASTER; DROSOPHILA PROTEINS; FEMALE; HUMANS; ICHTHYOSIS, LAMELLAR; MALE; MESANGIAL CELLS; MICE; MICE, KNOCKOUT; MUTATION; NEPHROTIC SYNDROME; PROTEIN TRANSPORT; RATS;

EID: 85015884455     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI89626     Document Type: Article

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