Christoforos Stavrou

Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis

Alena Vrbacká, Anna Přistoupilová, Kendrah O. Kidd, Václav Janoušek et autres

KEY POINTS: Single-molecule real-time sequencing with the PacMUC1 script resolved exact MUC1 variable tandem repeat structure and full allelic variation. In 300 individuals, the protocol identified 215 distinct MUC1 tandem repeat alleles with 80 repeat units and nine frameshift mutation types. Probe …

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Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression

Alena Vrbacká, Anna Přistoupilová, Kendrah O. Kidd, Václav Janoušek et autres

Abstract Background ADTKD- MUC1 is caused by frameshift mutations in MUC1 gene that produce a frameshifted protein (MUC1fs) toxic to kidney cells. The gene’s variable number of tandem repeats (VNTR), with high GC content, makes it largely inaccessible to standard sequencing. As …

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Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study

Kendrah O. Kidd, Adrienne H. Williams, Abbigail Taylor, Lauren Drew Martin et autres

MUC1 and UMOD pathogenic variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD). MUC1 is expressed in kidney, nasal mucosa and respiratory tract, while UMOD is expressed only in kidney. Due to haplo-insufficiency ADTKD- MUC1 patients produce approximately 50% of normal mucin-1. To …

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Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational Study

Kendrah O. Kidd, Adrienne H. Williams, Abbigail Taylor, Lauren Drew Martin et autres

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Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational Study

Kendrah O. Kidd, Adrienne H. Williams, Abbigail Taylor, Lauren Drew Martin et autres

ABSTRACT Background MUC1 and UMOD pathogenic variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD). MUC1 is expressed in kidney, nasal mucosa and respiratory tract, while UMOD is expressed only in kidney. Due to haplo-insufficiency ADTKD- MUC1 patients produce approximately 50% of normal …

cz, us, cn, gb, be, cy, ie, it, sk (code pays fourni par la source)

Increased Susceptibility and 9-Fold Increased Mortality From COVID-19 in Patients With ADTKD-MUC1

Kendrah O. Kidd, Petr Vyleťal, Alice Kim, Abbigail Taylor et autres

Background: Patients with autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations (ADTKD-MUC1) have a frameshift mutation on one allele of the MUC1 genotype, resulting in production an abnormal MUC1frameshift protein on on allele and normal MUC1 on the other allele. The …

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An international cohort study of autosomal dominant tubulointerstitial kidney disease due to mutations identifies distinct clinical subtypes

Martina Živná, Kendrah O. Kidd, Mohamad Zaidan, Petr Vyleťal et autres

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FO067ADTKD-MUC1 IN THE CYPRIOT POPULATION: GENOTYPING, DEEP-PHENOTYPING, BIOMARKER DISCOVERY AND THE SEARCH FOR A ROBUST TREATMENT

Gregory Papagregoriou, Christoforos Stavrou, Andrea Christofides, Constantina Koutsofti et autres

INTRODUCTION: A rare form of autosomal dominant tubulo-interstitial kidney disease is caused by mutations in the MUC1 gene which encodes for protein mucin-1 (ADTKD-MUC1). It is a rare inherited disease characterized by variable progression rate with patients reaching end-stage renal disease and …

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COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

Konstantinos Voskarides, Gregory Papagregoriou, Despina Hadjipanagi, Ioanelli Petrou et autres

BACKGROUND: About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full phenotypic spectrum of these patients varies a lot, ranging from isolated …

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Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental Glomerulosclerosis Is a Frequent Development during Ageing

Louiza Papazachariou, Panayiota Demosthenous, Myrtani Pieri, Gregory Papagregoriou et autres

Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families presenting glomerular microscopic hematuria (GMH), with or without proteinuria or chronic kidney function decline, but …

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Renal graft outcome in autosomal dominant medullary cystic kidney disease type 1

Andreas Soloukides, Dimitrios-Anestis D. Moutzouris, Gregory Papagregoriou, Christoforos Stavrou et autres

BACKGROUND: Medullary cystic kidney disease (MCKD) is an inherited interstitial nephritis, leading to end-stage renal disease (ESRD) between the fourth and seventh decade of life. MCKD shares clinical and morphological features with nephronophthisis, although advances in molecular genetics have distinguished these 2 …

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X‐linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5

P Demosthenous, Konstantinos Voskarides, Kostas Stylianou, Michalis Hadjigavriel et autres

Demosthenous P, Voskarides K, Stylianou K, Hadjigavriel M, Arsali M, Patsias C, Georgaki E, Zirogiannis P, Stavrou C, Daphnis E, Pierides A, Deltas C, Hellenic Nephrogenetics Research Consortium. X‐linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the …

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