Výsledky vyhledávání - "Ewa M. Malunowicz"

Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses

Autor: Frank Hannemann, Ewa M. Malunowicz, Stefan A. Wudy, Huy-Hoang Nguyen, Michaela F. Hartmann, Rita Bernhardt

Publikováno v: Molecular Genetics and Metabolism. 100:357-364

Context Aldosterone synthase deficiency (ASD) is an important differential diagnosis of diseases associated with salt wasting in early infancy. Objective The objective of this study was to investigate the molecular basis for the disorder by (1) molec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02cc77bbb4311e135af970de4af31aba
https://doi.org/10.1016/j.ymgme.2010.04.016

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Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche

Autor: Ewa M. Malunowicz, Nicole Reisch, Wiebke Arlt, Jan Idkowiak, John D. Davies, Ieuan A. Hughes, Nils Krone, Cedric H. L. Shackleton, Vivek Dhir, Maria Szarras-Czapnik, Donna M. Holmes

Publikováno v: The Journal of Clinical Endocrinology & Metabolism; Vol 95
The Journal of Clinical Endocrinology and Metabolism

Context: Undervirilization in males, i.e. 46,XY disordered sex development (46,XY DSD), is commonly caused by either lack of androgen action due to mutant androgen receptor (AR) or deficient androgen synthesis, e.g. due to mutations in 17α-hydroxyla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc214ba0dce4ab957dec7ad025a13ca1
https://doi.org/10.1210/jc.2010-0058

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Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency

Autor: Gareth G. Lavery, Ana Tiganescu, Wiebke Arlt, Paul M. Stewart, Elizabeth A. Walker, Ewa M. Malunowicz, John M. C. Connell, Jeremy W. Tomlinson, Anna Biason-Lauber, Cedric H. L. Shackleton, David W. Ray, Jon P. Ride

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 93:3827-3832

CONTEXT: Cortisone reductase deficiency (CRD) is characterized by a failure to regenerate cortisol from cortisone via 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1), resulting in increased cortisol clearance, activation of the hypothalamic-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::650ac5750b005e13c19e7ec3d790e27e
https://doi.org/10.1210/jc.2008-0743

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Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene

Autor: Stefan A. Wudy, Frank Hannemann, Michaela F. Hartmann, Huy Hoang Nguyen, Ewa M. Malunowicz, Rita Bernhardt, Antje Eiden-Plach

Publikováno v: The Journal of steroid biochemistry and molecular biology. 155

Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder of steroidogenesis. Steroid 11β-hydroxylase deficiency (11β-OHD) due to mutations in the CYP11B1 gene is the second most common form of CAH. In this study, 6 patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c76ec1bbcd2be993c6aa003b0596e2a9
https://pubmed.ncbi.nlm.nih.gov/26476331

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Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study

Autor: Fabian Hammer, Cedric H.L. Shackleton, Maria Borucka-Mankiewicz, Paul M. Stewart, Berthold P Hauffa, Hannah E Ivison, Elizabeth A. Walker, Ewa M. Malunowicz, Nicole Draper, Susan M Chalder, Wiebke Arlt, Jon P. Ride

Publikováno v: The Lancet. 363:2128-2135

Summary Background Congenital adrenal hyperplasia with apparent combined P450C17 and P450C21 deficiency is associated with accumulation of steroid metabolites, indicating impaired activity of 17α-hydroxylase and 21-hydroxylase. However, no mutations

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61d9c816e191e044e71482d1415c7123
https://doi.org/10.1016/s0140-6736(04)16503-3

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Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome

Autor: Ewa M. Malunowicz, Cedric H.L. Shackleton

Publikováno v: Steroids. 68:707-717

This paper collates and reviews a number of clinical cases published over the last 20 years that we believe describe a novel steroid disorder associated with genital ambiguity. The authors of the original papers were unable to diagnose their patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::367a1157f9f1637a4c9b33a15f028b13
https://doi.org/10.1016/s0039-128x(03)00115-6

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Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency

Autor: John M. C. Connell, Gareth G. Lavery, Susan M Chalder, Wiebke Arlt, Perrin C. White, Jeremy W. Tomlinson, Ian Laing, Oliver Bedendo, Martin Hewison, Philip J. Mason, Paul M. Stewart, Iwona J. Bujalska, Elizabeth A. Walker, Ewa M. Malunowicz, David W. Ray, Nicole Draper, Cedric H.L. Shackleton

Publikováno v: Nature genetics. 34(4)

In cortisone reductase deficiency (CRD), activation of cortisone to cortisol does not occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary syndrome (PCOS; refs. 1,2). This suggests a defect in t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::055a49000e6ccda0630643e416981f0f
http://ora.ox.ac.uk/objects/uuid:c470a7b2-876e-4057-a101-71370813ae2b

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Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Autor: Luitgard Graul-Neumann, Martin Silink, Maria Szarras-Czapnik, Jan Idkowiak, Ewa M. Malunowicz, Mehul T. Dattani, Michiel N. Kerstens, Nicole Reisch, Dominique Maiter, Nils Krone, Felicity Collins, Cedric H. L. Shackleton, Birgit Köhler, Stephen M. P. O'Riordan, Wiebke Arlt

Publikováno v: The Journal of Clinical Endocrinology and Metabolism
The Journal of Clinical Endocrinology & Metabolism; Vol 96
Journal of Clinical Endocrinology and Metabolism, 96(3), E453-E462. ENDOCRINE SOC

Adolescents with oxidoreductase deficiency present with impaired pubertal development, manifesting in girls with hypergonadotropic hypogonadism and ovarian cysts while boys may show delayed but spontaneous pubertal progression.
Context: P450 oxi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f2f36ae43574ad4507b4b090b024397
https://doi.org/10.1210/edrv.32.1.zef155a

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Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis

Autor: Deborah Cragun, Josep Marcos, Ewa M. Malunowicz, Petr E. Jira, Cedric H.L. Shackleton, Berthold P. Hauffa, Maria Szarras-Czapnik, Masanori Adachi, Wiebke Arlt, Michael Gottschalk, Norman Taylor, Robert J. Hopkin, Nuala Murphy, Ellen Crushell

Publikováno v: Scopus-Elsevier

Antley-Bixler syndrome (ABS, MIM 207410) is a skeletal abnormality syndrome primarily affecting head and limbs. Little is known of the origin of the condition but inactivating mutations in the fibroblast growth factor receptor (FGFR2) has been found

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee382b944bdff0b0f0518bdf57ad330b
http://www.scopus.com/inward/record.url?eid=2-s2.0-3042535976&partnerID=MN8TOARS

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