Jana K. Malikova

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 15 publications

Current clinical care for women with complete androgen insensitivity syndrome across the European reference network on rare endocrine conditions.

Current clinical care for women with complete androgen insensitivity syndrome across the European reference network on rare endocrine conditions.

Journal: Journal of endocrinological investigation

Published: February 05, 2026

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Journal: Nature communications

Published: February 29, 2024

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.

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.

Journal: Hormones (Athens, Greece)

Published: February 23, 2021

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.

Journal: The lancet. Diabetes & endocrinology

Published: January 31, 2020

Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants.

Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants.

Journal: The Journal of clinical endocrinology and metabolism

Published: January 11, 2020

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.

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.

Journal: The lancet. Diabetes & endocrinology

Published: February 19, 2019

HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications.

HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications.

Journal: Hormone research in paediatrics

Published: January 14, 2019

High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.

High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.

Journal: The Journal of clinical endocrinology and metabolism

Published: October 03, 2015

Mast cell stabilization with sodium cromoglycate modulates pulmonary vessel wall remodeling during four-day hypoxia in rats.

Mast cell stabilization with sodium cromoglycate modulates pulmonary vessel wall remodeling during four-day hypoxia in rats.

Journal: Experimental lung research

Published: June 09, 2015

McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue.

McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue.

Journal: Hormones (Athens, Greece)

Published: April 22, 2015

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.

Journal: European journal of human genetics : EJHG

Published: December 19, 2014

Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.

Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.

Journal: PloS one

Published: April 02, 2014

Showing 1-12 of 15

Last Updated: 09/26/2026