Jana Malíková

Charles University — Czech Republic

Biochemistry, Genetics and Molecular Biology · Life Sciences

10h-index580citations31works10.82yr avg
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Research Topics

Sexual Differentiation and Disorders(7), Genetics and Neurodevelopmental Disorders(6), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities(5), Thyroid Disorders and Treatments(4), Growth Hormone and Insulin-like Growth Factors(4)

Publications31 total

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration
Nature Communications·2025· 4 citedOpen Access
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study
EBioMedicine·2025· 4 citedOpen Access
A patient with different sex development (DSD)
Česko-slovenská pediatrie·2024Open Access
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development
EBioMedicine·2024· 35 citedOpen Access
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
Yearbook of pediatric endocrinology·2021· 2 cited
Novel presentation of the c.1856A > G (p.Asp619Gly) TSHR gene-activating variant: relapsing hyperthyroidism in three subsequent generations manifesting in early childhood and an in vitro functional study
HORMONES·2021· 2 cited
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial
Yearbook of pediatric endocrinology·2020· 2 cited
EXPERIENCES WITH EXPANDED CRITERIA DONORS: 10-YEAR ANALYSIS OF THE MARTIN, SLOVAKIA TRANSPLANT CENTER
Transplantation·2020· 1 cited
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
The Lancet Diabetes & Endocrinology·2020· 108 citedOpen Access
Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants
The Journal of Clinical Endocrinology & Metabolism·2020· 18 citedOpen Access
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial
The Lancet Diabetes & Endocrinology·2019· 122 citedOpen Access
HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications
Hormone Research in Paediatrics·2019· 8 citedOpen Access
Supplementary Material for: HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications
Figshare·2019Open Access
CYP17A1 inhibitor abiraterone, an anti-prostate cancer drug, also inhibits the 21-hydroxylase activity of CYP21A2
The Journal of Steroid Biochemistry and Molecular Biology·2017· 57 cited
Androgen production in pediatric adrenocortical tumors may occur via both the classic and/or the alternative backdoor pathway
Molecular and Cellular Endocrinology·2017· 9 cited
High Incidence of Heterozygous<i>ABCC8</i>and<i>HNF1A</i>Mutations in Czech Patients With Congenital Hyperinsulinism
The Journal of Clinical Endocrinology & Metabolism·2015· 42 citedOpen Access
Hyperglycemia Preceded by Neonatal Hyperinsulinemic Hypoglycemia in Infants with Novel HNF1A Mutations
54th Annual ESPE·2015
McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue
HORMONES·2015· 10 citedOpen Access
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations
European Journal of Human Genetics·2015· 45 citedOpen Access
Mast cell stabilization with sodium cromoglycate modulates pulmonary vessel wall remodeling during four-day hypoxia in rats
Experimental Lung Research·2015· 8 cited
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Frequent Co-authors

Jan Lebl(13), Klára Roženková(7), Petra Dušátková(6), Barbora Obermannová(6), Christa E. Flück(6), Stefan Groeneweg(5), Athanasia Stoupa(5), Alice Dica(5), Laura Paone(5), Diana Bârcă(5), Marco Cappa(5), Heiko Krude(5), Dana Craiu(5), Verónica Mericq(5), Davide Tonduti(4), Anne McGowan(4), Nicole I. Wolf(4), Gautam Ambegaonkar(4), Federica Zibordi(4), Zdenĕk Šumnı́k(4)