Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

J Halbritter, JD Porath, KA Diaz, DA Braun, S Kohl… - Human genetics, 2013 - Springer
Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal-recessive cystic kidney
diseases. More than 13 genes are implicated in its pathogenesis to date, accounting for only …

[PDF][PDF] Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

J Halbritter, AA Bizet, M Schmidts, JD Porath… - The American Journal of …, 2013 - cell.com
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules,
subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT …

[PDF][PDF] Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia

C Austin-Tse, J Halbritter, MA Zariwala… - The American Journal of …, 2013 - cell.com
Primary ciliary dyskinesia (PCD) is caused when defects of motile cilia lead to chronic
airway infections, male infertility, and situs abnormalities. Multiple causative PCD mutations …

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis

J Halbritter, M Baum, AM Hynes, SJ Rice… - Journal of the …, 2015 - journals.lww.com
Nephrolithiasis is a prevalent condition with a high morbidity. Although dozens of
monogenic causes have been identified, the fraction of single-gene disease has not been …

[PDF][PDF] ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

MA Zariwala, HY Gee, M Kurkowiak… - The American Journal of …, 2013 - cell.com
Defects of motile cilia cause primary ciliary dyskinesia (PCD), characterized by recurrent
respiratory infections and male infertility. Using whole-exome resequencing and high …

[PDF][PDF] Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

MR Knowles, LE Ostrowski, NT Loges, T Hurd… - The American Journal of …, 2013 - cell.com
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal-recessive
disorder, characterized by oto-sino-pulmonary disease and situs abnormalities. PCD …

[PDF][PDF] DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

M Schueler, DA Braun, G Chandrasekar… - The American Journal of …, 2015 - cell.com
Nephronophthisis-related ciliopathies (NPHP-RC) are recessive diseases characterized by
renal dysplasia or degeneration. We here identify mutations of DCDC2 as causing a renal …

[HTML][HTML] FAT1 mutations cause a glomerulotubular nephropathy

HY Gee, CE Sadowski, PK Aggarwal, JD Porath… - Nature …, 2016 - nature.com
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease (CKD).
Here we show that recessive mutations in FAT1 cause a distinct renal disease entity in four …

[PDF][PDF] Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

M Failler, HY Gee, P Krug, K Joo, J Halbritter… - The American Journal of …, 2014 - cell.com
Ciliopathies are a group of hereditary disorders associated with defects in cilia structure and
function. The distal appendages (DAPs) of centrioles are involved in the docking and …

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next …

J Halbritter, K Diaz, M Chaki, JD Porath… - Journal of medical …, 2012 - jmg.bmj.com
Objective To identify disease-causing mutations within coding regions of 11 known NPHP
genes (NPHP1-NPHP11) in a cohort of 192 patients diagnosed with a nephronophthisis …