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Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report

Kidney international, 2015-10, Vol.88 (4), p.676-683

2015

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Autosomal dominant tubulointerstitial kidney disease

Nature reviews. Disease primers, 2019-09, Vol.5 (1), p.60-60, Article 60

2019

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Adenylosuccinate lyase deficiency

Journal of inherited metabolic disease, 2015-03, Vol.38 (2), p.231-242

2015

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Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β

Pediatric nephrology (Berlin, West), 2022-05, Vol.37 (5), p.933-946

2022

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Autosomal Dominant Tubulointerstitial Kidney Disease

Advances in chronic kidney disease, 2017-03, Vol.24 (2), p.86-93

2017

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MANF stimulates autophagy and restores mitochondrial homeostasis to treat autosomal dominant tubulointerstitial kidney disease in mice

Nature communications, 2023-10, Vol.14 (1), p.6493-6493, Article 6493

2023

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Ntrk1 mutation co-segregating with bipolar disorder and inherited kidney disease in a multiplex family causes defects in neuronal growth and depression-like behavior in mice

Translational psychiatry, 2020-11, Vol.10 (1), p.407-407, Article 407

2020

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ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder

Scientific reports, 2024-04, Vol.14 (1), p.9321-9321, Article 9321

2024

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Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies

PloS one, 2018-07, Vol.13 (7), p.e0201432-e0201432

2018

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Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

American journal of human genetics, 2011-08, Vol.89 (2), p.241-252

2011

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Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation

Cell metabolism, 2014-09, Vol.20 (3), p.448-457

2014

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Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022

Scientific reports, 2023-04, Vol.13 (1), p.6156-6156, Article 6156

2023

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Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4

American journal of human genetics, 2018-03, Vol.102 (3), p.447-459

2018

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A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

Kidney international, 2022-02, Vol.101 (2), p.349-359

2022

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Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes

PloS one, 2018-04, Vol.13 (4), p.e0195761-e0195761

2018

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POLRMT mutations impair mitochondrial transcription causing neurological disease

Nature communications, 2021-02, Vol.12 (1), p.1135-13, Article 1135

2021

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PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome

Human molecular genetics, 2019-11, Vol.28 (22), p.3805-3814

2019

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Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

American journal of human genetics, 2016-01, Vol.98 (1), p.75-89

2016

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Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

Journal of the American Society of Nephrology, 2018-09, Vol.29 (9), p.2418-2431

2018

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Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

BMC nephrology, 2018-10, Vol.19 (1), p.301-301, Article 301

2018

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TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Nature genetics, 2008-11, Vol.40 (11), p.1288-1290

2008

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Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds

Metabolites, 2022-12, Vol.12 (12), p.1210

2022

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Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency

Human mutation, 2010-04, Vol.31 (4), p.445-455

2010

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Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report

Autosomal dominant tubulointerstitial kidney disease

Adenylosuccinate lyase deficiency

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1

Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β

Autosomal Dominant Tubulointerstitial Kidney Disease

MANF stimulates autophagy and restores mitochondrial homeostasis to treat autosomal dominant tubulointerstitial kidney disease in mice

Ntrk1 mutation co-segregating with bipolar disorder and inherited kidney disease in a multiplex family causes defects in neuronal growth and depression-like behavior in mice

ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder

Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation

Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4

A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes

POLRMT mutations impair mitochondrial transcription causing neurological disease

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds

Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency

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