Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

Evita van de Steeg, Viktor Stránecký, Hana Hartmannová, +13

Journal of Clinical Investigation

Drug ConjugatesGeneticsHuman Rotor SyndromePathologyMolecular Genetics +23

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

Lenka Nosková, Viktor Stránecký, Hana Hartmannová, +14

The American Journal of Human Genetics

Linkage MappingNeurogenomicsGeneticsPathologyNeurochemical Biomarkers +19

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Alena Čížková, Viktor Stránecký, Johannes A. Mayr, +18

Nature Genetics

Mitochondrial MyopathyNeonatal Mitochondrial EncephalocardiomyopathyMitochondrial BiogenesisMitochondrial FunctionGenetics +6

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Martin Hřebı́ček, Lenka Mrázová, Volkan Seyrantepe, +27

The American Journal of Human Genetics

Sanfilippo C SyndromeAutoimmune DiseaseGenetic DisorderPathogenesisPathology +4

Mutations in ANTXR1 Cause GAPO Syndrome

Viktor Stránecký, Alexander Hoischen, Hana Hartmannová, +22

The American Journal of Human Genetics

Genetic DisorderMedicineGeneticsPathogenesisPathology +2

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

Alice E. Davidson, Petra Lišková, Cerys J. Evans, +23

The American Journal of Human Genetics

The influence of pore size on colonization of poly(l-lactide-glycolide) scaffolds with human osteoblast-like MG 63 cells in vitro

Elżbieta Pamuła, Lucie Bačáková, Elena Filová, +4

Journal of Materials Science Materials in Medicine

Tissue EngineeringRegenerative MedicineEngineeringBiomaterialsBiomaterials Design +10

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Pauline E. Schneeberger, Fanny Kortüm, Georg Christoph Korenke, +39

Brain

Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene

Hana Hartmannová, Miloš Kubánek, Marek Šramko, +12

Circulation Cardiovascular Genetics

<i>DNAJC30</i> defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

Sarah L. Stenton, Markéta Tesařová, Claudia B. Catarino, +21

Brain

Mendelian DisorderOphthalmologyGenetic DisorderGeneticsGenetic Epidemiology +13