Search for new genetic biomarkers in poorly differentiated and anaplastic thyroid carcinomas using next generation sequencing

…, P Lastuvka, J Betka, P Vlcek, M Reboun… - Anticancer …, 2015 - ar.iiarjournals.org
Background: Poorly differentiated thyroid carcinoma (PDTC) and anaplastic thyroid carcinoma
(ATC) are very rare tumors with extremely aggressive behavior. Their comprehensive …

Pitfalls of X‐chromosome inactivation testing in females with Fabry disease

M Řeboun, J Sikora, M Magner… - American Journal of …, 2022 - Wiley Online Library
Martin Magner provided essential contribution to initial manuscript, co-edited the final
version of the manuscript. HelenaWiederlechnerová and Alena Černá generated and analyzed …

A novel RET/PTC variant detected in a pediatric patient with papillary thyroid cancer without ionization history

…, V Sykorova, J Vcelak, P Sykorova, P Vlcek, M Reboun… - Human Pathology, 2015 - Elsevier
Papillary thyroid carcinoma (PTC) is the most frequent type of thyroid cancer. Its development
is often caused by the formation of RET/PTC fused genes. RET/PTC1 is the most prevalent …

[HTML][HTML] Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

…, B Asfaw, H Vlaskova, G Storkanova, M Reboun… - Orphanet journal of rare …, 2020 - Springer
Background Niemann-Pick type C (NP-C) is a rare neurovisceral genetic disorder caused
by mutations in the NPC1 or the NPC2 gene. NPC1 is a multipass-transmembrane protein …

Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency

D Musalkova, E Sticova, M Reboun, J Sokolova, J Krijt… - Virchows Archiv, 2018 - Springer
Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder that causes recurrent
and life-threatening episodes of hyperammonemia. The clinical picture in heterozygous …

LAMP2 exon‐copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

F Majer, L Piherova, M Reboun, V Stara… - American Journal of …, 2018 - Wiley Online Library
Danon disease (DD) is an X‐linked disorder caused by mutations in the lysosomal‐associated
membrane protein 2 (LAMP2) gene (Xq24). DD is characterized by cognitive deficit, …

Alu‐mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient

…, P Dusek, L Piherova, M Reboun… - American Journal of …, 2020 - Wiley Online Library
Cullin 4B (CUL4B), lysosomal‐associated membrane protein Type 2 (LAMP2), ATP1B4,
TMEM255A, and ZBTB33 are neighboring genes on Xq24. Mutations in CUL4B result in …

Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency

J Krijt, J Sokolová, P Ješina, L Dvořáková… - Clinical Chemistry and …, 2017 - degruyter.com
Background: Liver enzymes are released from hepatocytes into circulation and their activity
can be measured in the blood. We examined whether the plasma activity of the liver enzyme …

[HTML][HTML] Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients

V Malinová, H Poupětová, M Řeboun… - International Journal of …, 2023 - mdpi.com
Martin Magner has received the lecture honoraria from TAKEDA. None of these had an
influence on the design, accomplishment, or evaluation of this study. Other authors have nothing …

[PDF][PDF] X-linked adrenoleukodystrophy: Phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations

M Zemanova, P Chrastina, L Dvorakova, M Reboun… - Neuroendocrinol …, 2021 - nel.edu
OBJECTIVES: X-linked adrenoleukodystrophy (X-ALD) causes cerebral adrenoleukodystrophy
(cALD), myelopathy and/or adrenal insufficiency in males, and myelopathy/peripheral …