Beyond the tubule: pathological variants of

Adolescent Adult Animals Child Child, Preschool Female Genetic Predisposition to Disease Genetic Variation Humans Kidney Glomerulus / pathology Low Density Lipoprotein Receptor-Related Protein-2 / genetics Male Mice Mice, Knockout Middle Aged Renal Insufficiency, Chronic / genetics Young Adult
cationic ferritin-enhanced magnetic resonance imaging glomerular number kidney disease etiology megalin nephron loss proximal tubule

Journal

American journal of physiology. Renal physiology
ISSN: 1522-1466
Titre abrégé: Am J Physiol Renal Physiol
Pays: United States
ID NLM: 100901990

Informations de publication

Date de publication:
01 12 2020
Historique:
pubmed: 27 10 2020
medline: 17 12 2020
entrez: 26 10 2020
Statut: ppublish

Résumé

Pathogenic variants in the

Identifiants

DOI: 10.1152/ajprenal.00295.2020 PMID: 33103447 PMC: PMC7792689
pubmed: 33103447
doi: 10.1152/ajprenal.00295.2020
pmc: PMC7792689
doi:

Substances chimiques

LRP2 protein, human 0
Low Density Lipoprotein Receptor-Related Protein-2 0
Lrp2 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

Pagination

F988-F999

Subventions

Organisme : NIDDK NIH HHS
ID : R01 DK110622
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK076683
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK111861
Pays : United States
Organisme : NHGRI NIH HHS
ID : U54 HG006504
Pays : United States
Organisme : NIH HHS
ID : DK0668306
Pays : United States
Organisme : NIH HHS
ID : R01DK110622
Pays : United States
Organisme : NCRR NIH HHS
ID : S10 RR019911
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001863
Pays : United States
Organisme : NIH HHS
ID : R01DK111861
Pays : United States
Organisme : NIH HHS
ID : 1S10RR019911-01
Pays : United States
Organisme : NIDDK NIH HHS
ID : P30 DK079310
Pays : United States

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Auteurs

Jennifer R Charlton (JR)

Division of Nephrology, Department of Pediatrics, University of Virginia, Charlottesville, Virginia.

Weizhen Tan (W)

Division of Nephrology, Massachusetts General Hospital for Children, Boston, Massachusetts.

Ghaleb Daouk (G)

Division of Nephrology, Massachusetts General Hospital for Children, Boston, Massachusetts.

Lisa Teot (L)

Department of Pathology, Boston Children's Hospital, Boston, Massachusetts.

Seymour Rosen (S)

Department of Pathology, Boston Children's Hospital, Boston, Massachusetts.
Department of Pathology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.

Kevin M Bennett (KM)

Department of Radiology, Washington University in Saint Louis, St. Louis, Missouri.

Aleksandra Cwiek (A)

Division of Nephrology, Department of Pediatrics, University of Virginia, Charlottesville, Virginia.

Sejin Nam (S)

Department of Physics, University of Hawai'i at Manoa, Manoa, Hawai'i.

Francesco Emma (F)

Division of Nephrology, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital- Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.

François Jouret (F)

Groupe Interdisciplinaire de Génoprotéomique Appliquée, Unit of Cardiovascular Sciences, University of Liège, Liège, Belgium.

João Paulo Oliveira (JP)

Service of Medical Genetics, São João University Hospital Centre and Faculty of Medicine, University of Porto and i3S-Institute for Health Research and Innovation, Porto, Portugal.

Lisbeth Tranebjærg (L)

Department of Clinical Genetics, Rigshospitalet/The Kennedy Centre, Copenhagen, Denmark.
Institute of Clinical Medicine, University of Copenhagen, The Panum Institute, Copenhagen, Denmark.

Carina Frykholm (C)

Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

Shrikant Mane (S)

Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.

Friedhelm Hildebrandt (F)

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

Tarak Srivastava (T)

Children's Mercy Hospital, Kansas City, Missouri.

Tina Storm (T)

Department of Biomedicine, Aarhus University, Aarhus, Denmark.

Erik Ilsø Christensen (EI)

Department of Biomedicine, Aarhus University, Aarhus, Denmark.

Rikke Nielsen (R)

Department of Biomedicine, Aarhus University, Aarhus, Denmark.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Beyond the tubule: pathological variants of
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Beyond the tubule: pathological variants of
questionsmedicales.fr › Eucaryotes › Animaux › Beyond the tubule: pathological variants of
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Beyond the tubule: pathological variants of
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Beyond the tubule: pathological variants of
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Beyond the tubule: pathological variants of
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Beyond the tubule: pathological variants of
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Beyond the tubule: pathological variants of
questionsmedicales.fr › Appareil urogénital › Voies urinaires › Rein › Néphrons › Glomérule rénal › Beyond the tubule: pathological variants of
questionsmedicales.fr › Facteurs biologiques › Antigènes › Autoantigènes › Complexe antigénique de la néphrite de Heymann › Protéine-2 apparentée au récepteur des LDL › Beyond the tubule: pathological variants of
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Beyond the tubule: pathological variants of
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Souris transgéniques › Souris knockout › Beyond the tubule: pathological variants of
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Beyond the tubule: pathological variants of
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Maladie chronique › Insuffisance rénale chronique › Beyond the tubule: pathological variants of
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