Cargando…

Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting

Apart from increased fluid intake, patients with kidney stone disease (KSD) due to renal phosphate wasting require specific metaphylaxis. NaPi2a, NaPi2c, and NHERF1 regulate plasma phosphate concentration by reabsorbing phosphate in proximal kidney tubules and have been found altered in monogenic hy...

Descripción completa

Detalles Bibliográficos
Autores principales:	Petzold, Friederike, Schönauer, Ria, Werner, Andreas, Halbritter, Jan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10180814/ https://www.ncbi.nlm.nih.gov/pubmed/37432176 http://dx.doi.org/10.3390/nu15092081

Ejemplares similares

Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting
por: Schönauer, Ria, et al.
Publicado: (2019)

Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia
por: Petzold, Friederike, et al.
Publicado: (2022)

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes
por: Schönauer, Ria, et al.
Publicado: (2020)

Delta weight loss unlike genetic variation associates with hyperoxaluria after malabsorptive bariatric surgery
por: Scherer, Lotte, et al.
Publicado: (2023)

ENAM mutations and digenic inheritance
por: Zhang, Hong, et al.
Publicado: (2019)

Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany
por: Halbritter, Jan, et al.
Publicado: (2018)

Exploring digenic inheritance in arrhythmogenic cardiomyopathy
por: König, Eva, et al.
Publicado: (2017)

Digenic inheritance in medical genetics
por: Schäffer, Alejandro A
Publicado: (2013)

Digenic Inheritance in Cystinuria Mouse Model
por: Espino, Meritxell, et al.
Publicado: (2015)

Understanding mutational effects in digenic diseases
por: Gazzo, Andrea, et al.
Publicado: (2017)

Clinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency Disorders
por: Ameratunga, Rohan, et al.
Publicado: (2018)

Assessing the digenic model in rare disorders using population sequencing data
por: Moreno-Ruiz, Nerea, et al.
Publicado: (2022)

Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis
por: Steen, Erica A., et al.
Publicado: (2021)

Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome
por: Schönauer, Ria, et al.
Publicado: (2019)

Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics
por: de Fallois, Jonathan, et al.
Publicado: (2021)

Non-collagen genes role in digenic Alport syndrome
por: Daga, S., et al.
Publicado: (2019)

DIDA: A curated and annotated digenic diseases database
por: Gazzo, Andrea M., et al.
Publicado: (2016)

Digenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family
por: Riahi, Kourosh, et al.
Publicado: (2021)

Iron Chelation Resulting in Renal Phosphate Wasting
por: Cheddani, Lynda, et al.
Publicado: (2017)

Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation
por: Petzold, Friederike, et al.
Publicado: (2019)

Genotype Pattern Mining for Pairs of Interacting Variants Underlying Digenic Traits
por: Okazaki, Atsuko, et al.
Publicado: (2021)

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies
por: Najafi, Arash, et al.
Publicado: (2019)

Digenic mutations on SCAP and AGXT2 predispose to premature myocardial infarction
por: Gao, Yuanfeng, et al.
Publicado: (2017)

GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism
por: Gonçalves, Catarina I, et al.
Publicado: (2017)

Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism
por: Aycan, Zehra, et al.
Publicado: (2017)

Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer
por: Schubert, Stephanie A., et al.
Publicado: (2020)

The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype–Phenotype Correlations of the Disease
por: Kamar, Amina, et al.
Publicado: (2021)

Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly
por: Sewerin, Sebastian, et al.
Publicado: (2021)

Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?
por: Ferrari, Luca, et al.
Publicado: (2020)

Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways
por: Duerinckx, Sarah, et al.
Publicado: (2019)

Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole‐exome sequencing
por: Ren, Ming‐Bao, et al.
Publicado: (2020)

Renal Phosphate Wasting Due to Tumor-Induced (Oncogenic) Osteomalacia
por: Amaratunga, Eluwana A, et al.
Publicado: (2021)

Variant Curation is Crucial to Claim Digenic Inheritance in Juvenile Open Angle Glaucoma
por: Poon, Kok-Siong, et al.
Publicado: (2021)

Digenic Inheritance and Gene-Environment Interaction in a Patient With Hypertriglyceridemia and Acute Pancreatitis
por: Yang, Qi, et al.
Publicado: (2021)

Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy
por: Abdallah, Atiyeh M, et al.
Publicado: (2019)

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome
por: Li, Mengnan, et al.
Publicado: (2020)

Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly
por: Stone, Stephen I, et al.
Publicado: (2020)

An accurate prediction model of digenic interaction for estimating pathogenic gene pairs of human diseases
por: Yuan, Yangyang, et al.
Publicado: (2022)

Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome
por: McCormack, Shana E., et al.
Publicado: (2017)

PSAT219 Renal Phosphate Wasting Caused by ENPP-1 mutation.
por: Madahar, Inderpreet, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_aef0cjbbt7lvtu1j657h7lhhef