Recessive

Actins / genetics Adaptor Proteins, Signal Transducing / metabolism Animals Formins / genetics Humans Kidney Diseases / metabolism Mice Nephrotic Syndrome / genetics Podocytes / metabolism

Journal

Science advances
ISSN: 2375-2548
Titre abrégé: Sci Adv
Pays: United States
ID NLM: 101653440

Informations de publication

Date de publication:
01 2021
Historique:
received: 04 08 2020
accepted: 11 11 2020
entrez: 1 2 2021
pubmed: 2 2 2021
medline: 16 4 2022
Statut: epublish

Résumé

Nephrotic syndrome (NS) is a leading cause of chronic kidney disease. We found recessive

Identifiants

DOI: 10.1126/sciadv.abe1386 PMID: 33523862
pubmed: 33523862
pii: 7/1/eabe1386
doi: 10.1126/sciadv.abe1386
pii:
doi:

Substances chimiques

Actins 0
Adaptor Proteins, Signal Transducing 0
Formins 0
NOS1AP protein, human 0
Nos1ap protein, mouse 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : NICHD NIH HHS
ID : K12 HD052896
Pays : United States
Organisme : NIDDK NIH HHS
ID : P30 DK079310
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK076683
Pays : United States
Organisme : NIDDK NIH HHS
ID : T32 DK007726
Pays : United States
Organisme : NIDDK NIH HHS
ID : T32 DK007527
Pays : United States
Organisme : NIDDK NIH HHS
ID : F32 DK122766
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006504
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG008956
Pays : United States

Informations de copyright

Copyright © 2021 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. Distributed under a Creative Commons Attribution NonCommercial License 4.0 (CC BY-NC).

Auteurs

Amar J Majmundar (AJ)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0002-9891-178X

Florian Buerger (F)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0003-2655-387X

Thomas A Forbes (TA)

Kidney Development, Disease and Regeneration Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
Department of Nephrology, Royal Children's Hospital, Parkville, Victoria, Australia.
ORCID: 0000-0001-6635-8855

Verena Klämbt (V)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Ronen Schneider (R)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0003-3845-3489

Konstantin Deutsch (K)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0003-2952-5030

Thomas M Kitzler (TM)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
The Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.

Sara E Howden (SE)

Kidney Development, Disease and Regeneration Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.

Michelle Scurr (M)

Kidney Development, Disease and Regeneration Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.

Ker Sin Tan (KS)

Kidney Development, Disease and Regeneration Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.

Mickaël Krzeminski (M)

Molecular Medicine Program, The Hospital for Sick Children, Toronto, ON, Canada.

Eugen Widmeier (E)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0002-7773-5190

Daniela A Braun (DA)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Ethan Lai (E)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Ihsan Ullah (I)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0001-7846-3118

Ali Amar (A)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0002-3240-0741

Amy Kolb (A)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0002-2582-3391

Kaitlyn Eddy (K)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Chin Heng Chen (CH)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Daanya Salmanullah (D)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0003-4219-6833

Rufeng Dai (R)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Makiko Nakayama (M)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Isabel Ottlewski (I)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Caroline M Kolvenbach (CM)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0003-2789-2654

Ana C Onuchic-Whitford (AC)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0003-0362-0400

Youying Mao (Y)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Nina Mann (N)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Marwa M Nabhan (MM)

Department of Pediatrics, Center for Pediatric Nephrology and Transplantation, Kasr Al Ainy Medical School, Cairo University, Cairo, Egypt.

Seymour Rosen (S)

Department of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.

Julie D Forman-Kay (JD)

Molecular Medicine Program, The Hospital for Sick Children, Toronto, ON, Canada.
Department of Biochemistry, University of Toronto, Toronto, ON, Canada.
ORCID: 0000-0001-8265-972X

Neveen A Soliman (NA)

Department of Pediatrics, Center for Pediatric Nephrology and Transplantation, Kasr Al Ainy Medical School, Cairo University, Cairo, Egypt.
ORCID: 0000-0002-8942-1973

Andreas Heilos (A)

Department of Pediatrics, Medical University of Vienna, Vienna, Austria.

Renate Kain (R)

Department of Pathology, Medical University of Vienna, Vienna, Austria.
ORCID: 0000-0002-2428-543X

Christoph Aufricht (C)

Department of Pediatrics, Medical University of Vienna, Vienna, Austria.

Shrikant Mane (S)

Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
ORCID: 0000-0002-3267-5139

Richard P Lifton (RP)

Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.

Shirlee Shril (S)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0003-4218-7566

Melissa H Little (MH)

Kidney Development, Disease and Regeneration Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
ORCID: 0000-0003-0380-2263

Friedhelm Hildebrandt (F)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. friedhelm.hildebrandt@childrens.harvard.edu.
ORCID: 0000-0002-7130-0030

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cytosquelette › Protéines des microfilaments › Actines › Recessive
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protéines adaptatrices de la transduction du signal › Recessive
questionsmedicales.fr › Eucaryotes › Animaux › Recessive
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cytosquelette › Protéines des microfilaments › Formines › Recessive
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Recessive
questionsmedicales.fr › Maladies urogénitales › Maladies urologiques › Maladies du rein › Recessive
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Recessive
questionsmedicales.fr › Maladies urogénitales › Maladies urologiques › Maladies du rein › Néphrose › Syndrome néphrotique › Recessive
questionsmedicales.fr › Cellules › Cellules épithéliales › Podocytes › Recessive