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

Authors: Stefan Groeneweg, Ferdy S. van Geest, Mariano Martín, Mafalda Dias, Jonathan Frazer, Carolina Medina-Gomez, Rosalie B. T. M. Sterenborg, Hao Wang, Anna Dolcetta-Capuzzo, Linda J. de Rooij, Alexander Teumer, Ayhan Abaci, Erica L. T. van den Akker, Gautam P. Ambegaonkar, Christine M. Armour, Iiuliu Bacos, Priyanka Bakhtiani, Diana Barca, Andrew J. Bauer, Sjoerd A. A. van den Berg, Amanda van den Berge, Enrico Bertini, Ingrid M. van Beynum, Nicola Brunetti-Pierri, Doris Brunner, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Claudia Castiglioni, Krishna Chatterjee, Alexander Chesover, Peter Christian, Jet Coenen-van der Spek, Irenaeus F. M. de Coo, Regis Coutant, Dana Craiu, Patricia Crock, Christian DeGoede, Korcan Demir, Cheyenne Dewey, Alice Dica, Paul Dimitri, Marjolein H. G. Dremmen, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Luigi Garibaldi, Belinda George, Evelien F. Gevers, Erin Greenup, Annette Hackenberg, Zita Halász, Bianka Heinrich, Anna C. Hurst, Tony Huynh, Amber R. Isaza, Anna Klosowska, Marieke M. van der Knoop, Daniel Konrad, David A. Koolen, Heiko Krude, Abhishek Kulkarni, Alexander Laemmle, Stephen H. LaFranchi, Amy Lawson-Yuen, Jan Lebl, Selmar Leeuwenburgh, Michaela Linder-Lucht, Anna López Martí, Cláudia F. Lorea, Charles M. Lourenço, Roelineke J. Lunsing, Greta Lyons, Jana Krenek Malikova, Edna E. Mancilla, Kenneth L. McCormick, Anne McGowan, Veronica Mericq, Felipe Monti Lora, Carla Moran, Katalin E. Muller, Lindsey E. Nicol, Isabelle Oliver-Petit, Laura Paone, Praveen G. Paul, Michel Polak, Francesco Porta, Fabiano O. Poswar, Christina Reinauer, Klara Rozenkova, Rowen Seckold, Tuba Seven Menevse, Peter Simm, Anna Simon, Yogen Singh, Marco Spada, Milou A. M. Stals, Merel T. Stegenga, Athanasia Stoupa, Gopinath M. Subramanian, Lilla Szeifert, Davide Tonduti, Serap Turan, Joel Vanderniet, Adri van der Walt, Jean-Louis Wémeau, Anne-Marie van Wermeskerken, Jolanta Wierzba, Marie-Claire Y. de Wit, Nicole I. Wolf, Michael Wurm, Federica Zibordi, Amnon Zung, Nitash Zwaveling-Soonawala, Fernando Rivadeneira, Marcel E. Meima, Debora S. Marks, Juan P. Nicola, Chi-Hua Chen, Marco Medici, W. Edward Visser

Source: Nature Communications, Vol 16, Iss 1, Pp 1-21 (2025)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/0de7590ce33f4dff8cde3e316c92a6e6

Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next studyResearch in context

Authors: Chrysanthi Kouri, Idoia Martinez de Lapiscina, Rawda Naamneh-Elzenaty, Grit Sommer, Kay-Sara Sauter, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, S. Faisal Ahmed, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Hedi L. Claahsen - van der Grinten, Martine Cools, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia- Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Ieuan Hughes, Marco Janner, Uchenna Kennedy, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar L’Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, LIoyd J.W. Tack, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska

Source: EBioMedicine, Vol 113, Iss , Pp 105624- (2025)

Subject Terms: Differences of sex development (DSD), Steroidogenic factor 1 (SF-1/NR5A1), 46,XY DSD, Oligogenicity, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396425000684; https://doaj.org/toc/2352-3964

Access URL: https://doaj.org/article/70dadd4b4fe745a893eb824ff8477932

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex developmentResearch in context

Authors: Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska

Source: EBioMedicine, Vol 99, Iss , Pp 104941- (2024)

Subject Terms: Steroidogenic factor 1 (SF-1/NR5A1), Differences of sex development (DSD), Broad phenotype, Genetics of sex determination and differentiation, Intersex, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396423005078; https://doaj.org/toc/2352-3964

Access URL: https://doaj.org/article/85fc4633ac7a47e48fff5e498c208fd3

Identifying patient-related predictors of permanent growth hormone deficiency

Authors: Veronica Mericq, German Iñiguez, Graziella Pinto, Laura G. Gonzalez-Briceño, Dinane Samara-Boustani, Caroline Thalassinos, Isabelle Flechtner, Athanasia Stoupa, Jacques Beltrand, Alix Besançon, Séverine Brabant, Khaldoun Ghazal, Monique Leban, Philippe Touraine, Gabriel Cavada, Michel Polak, Dulanjalee Kariyawasam

Source: Frontiers in Endocrinology, Vol 14 (2023)

Subject Terms: growth hormone deficiency, transitional period, care transition, growth hormone testing, permanent GHD predictors, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1270845/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/a6b9d575ff7443c8b456833f27974b5f

New insights from GWAS on BMI-related growth traits in a longitudinal cohort of admixed children with Native American and European ancestry

Authors: Lucas Vicuña, Esteban Barrientos, Tomás Norambuena, Danilo Alvares, Juan Cristobal Gana, Valeria Leiva-Yamaguchi, Cristian Meza, José L. Santos, Veronica Mericq, Ana Pereira, Susana Eyheramendy

Source: iScience, Vol 26, Iss 2, Pp 106091- (2023)

Subject Terms: Health sciences, Human genetics, Genomics, Science

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589004223001682; https://doaj.org/toc/2589-0042

Access URL: https://doaj.org/article/2a516fbd953842e4868765552345c67d

Intrauterine Twin Discordancy and Partial Postnatal Catch-up Growth in a Girl with a Pathogenic IGF1R Mutation

Authors: Paula Ocaranza, Monique Losekoot, Marie J. E. Walenkamp, Christiaan De Bruin, Jan M. Wit, Veronica Mericq

Source: JCRPE, Vol 11, Iss 3, Pp 293-300 (2019)

Subject Terms: Insulin-like growth factor type-1, insulin-like growth factor type-1 receptor, small for gestational age, postnatal growth, intrauterine discordancy, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: http://www.jcrpe.org/archives/archive-detail/article-preview/ntrauterine-twin-discordancy-and-partial-postnatal/25619; https://doaj.org/toc/1308-5727; https://doaj.org/toc/1308-5735

Access URL: https://doaj.org/article/f559623d5b644e64b615d73beac403ba

Erratum to 'Growth Retardation in Children with Kidney Disease'

Authors: Paulina Salas, Viola Pinto, Josefina Rodriguez, Maria Jose Zambrano, Veronica Mericq

Source: International Journal of Endocrinology, Vol 2014 (2014)

Subject Terms: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://doaj.org/toc/1687-8337; https://doaj.org/toc/1687-8345

Access URL: https://doaj.org/article/4d400d85e451484eb68edc40b28eb6bd

Growth Retardation in Children with Kidney Disease

Authors: Paulina Salas, Viola Pinto, Josefina Rodriguez, Maria Jose Zambrano, Veronica Mericq

Source: International Journal of Endocrinology, Vol 2013 (2013)

Subject Terms: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://doaj.org/toc/1687-8337; https://doaj.org/toc/1687-8345

Access URL: https://doaj.org/article/9c91d66b8b3d4bde9a06ee5b08ab5a26

Association between plasma leptin/adiponectin ratio and insulin resistance indexes in prepubertal children

Authors: Carolina Bravo, Verónica Mericq, Ana Pereira, Camila Corvalán, Hugo E. Tobar, José Patricio Miranda, José Luis Santos

Source: Archives of Endocrinology and Metabolism, Vol 68 (2024)

Subject Terms: Insulin resistance, leptin, adiponectin, leptin/adiponectin ratio, Medicine, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972024000100318&lng=en&tlng=en; http://www.scielo.br/pdf/aem/v68/2359-4292-aem-68-e220353.pdf; https://doaj.org/toc/2359-4292

Access URL: https://doaj.org/article/d2c12d4ce818490ea8f84d5398a09f07

Differential methylation pattern in pubertal girls associated with biochemical premature adrenarche

Authors: Diana Ponce, Fernando Rodríguez, José P. Miranda, Alexandra M. Binder, José L. Santos, Karin B. Michels, Gordon B. Cutler, Ana Pereira, Germán Iñiguez, Verónica Mericq

Source: Epigenetics, Vol 18, Iss 1 (2023)

Subject Terms: premature adrenarche, dheas, methylation, glucose metabolism, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1559-2294; https://doaj.org/toc/1559-2308

Access URL: https://doaj.org/article/7428a6c1936f4beaa926de779c9b4405

Assessment of a consensus definition of obesity and metabolic health phenotypes in children at different pubertal stages

Authors: Ana Pereira, Marcela Reyes, Camila Corvalán, Juan Pablo Espejo, Verónica Mericq, Mariana Cifuentes

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/af91c89047cb49789ea55d4d05dd4f09

Inverse association between estrogen receptor-α DNA methylation and breast composition in adolescent Chilean girls

Authors: Alexandra M Binder, Leah T Stiemsma, Kristen Keller, Sanne D van Otterdijk, Verónica Mericq, Ana Pereira, José L Santos, John Shepherd, Karin B Michels

Source: Clinical Epigenetics, Vol 10, Iss 1, Pp 1-12 (2018)

Subject Terms: Estrogen receptor-α, DNA methylation, Epigenetics, Breast density, Fibroglandular volume, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13148-018-0553-5; https://doaj.org/toc/1868-7075; https://doaj.org/toc/1868-7083

Access URL: https://doaj.org/article/a2f803dfab9e450487fc62b7d64de388

Childhood and adolescent phenol and phthalate exposure and the age of menarche in Latina girls

Authors: Alexandra M. Binder, Camila Corvalan, Antonia M. Calafat, Xiaoyun Ye, Verónica Mericq, Ana Pereira, Karin B. Michels

Source: Environmental Health, Vol 17, Iss 1, Pp 1-11 (2018)

Subject Terms: Menarche, Puberty, Phenols, Phthalates, Endocrine disrupting chemicals, Industrial medicine. Industrial hygiene, RC963-969, Public aspects of medicine, RA1-1270

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12940-018-0376-z; https://doaj.org/toc/1476-069X

Access URL: https://doaj.org/article/d4caae3e59ad45ce8723cc830a18dcd0

Faster ticking rate of the epigenetic clock is associated with faster pubertal development in girls

Authors: Alexandra M. Binder, Camila Corvalan, Verónica Mericq, Ana Pereira, José Luis Santos, Steve Horvath, John Shepherd, Karin B. Michels

Source: Epigenetics, Vol 13, Iss 1, Pp 85-94 (2018)

Subject Terms: puberty, thelarche, menarche, breast density, epigenetic clock, dna methylation, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1559-2294; https://doaj.org/toc/1559-2308

Access URL: https://doaj.org/article/5ed7d26eaf9045098bb667506555021b

Klotho Gene and Protein in Human Placentas According to Birth Weight and Gestational Age

Authors: Germán Iñiguez, Pedro Gallardo, Juan Jose Castro, Rene Gonzalez, Mirna Garcia, Elena Kakarieka, Sebastian San Martin, Maria Cecilia Johnson, Verónica Mericq, Fernando Cassorla

Source: Frontiers in Endocrinology, Vol 9 (2019)

Subject Terms: placenta, klotho, IGF-I, IGF-IR, fetal growth, small for gestation age (SGA), Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fendo.2018.00797/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/98c55c2489534fbd80149c5ca925576c

MEDICIONES ULTRASONOGRAFICAS Y DE TOMOGRAFIA COMPUTADA DE ADIPOSIDAD Y ALTERACIONES METABOLICAS ASOCIADAS A OBESIDAD EN NIÑOS

Authors: Aníbal Espinoza G, Marcela Reyes J, Francisco Moraga M, M. Jesús Rebollo G, Verónica Mericq, Carlos Castillo D

Source: Revista Chilena de Radiología, Vol 12, Iss 4, Pp 172-176 (2006)

Subject Terms: Adiposidad visceral, Niñez, Obesidad, Tomografía computada, Ultrasonografía, Childhood, Computed Tomography, Metabolic syndrome, Obesity, Ultrasound, Visceral adiposity, Medical physics. Medical radiology. Nuclear medicine, R895-920, Medical technology, R855-855.5

File Description: electronic resource

Relation: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-93082006000400007; https://doaj.org/toc/0717-201X; https://doaj.org/toc/0717-9308

Access URL: https://doaj.org/article/caa6f94c761a4acab2b27722a71e93dc

IGF-IR signal transduction protein content and its activation by IGF-I in human placentas: relationship with gestational age and birth weight.

Authors: Germán Iñiguez, Juan José Castro, Mirna Garcia, Elena Kakarieka, M Cecilia Johnson, Fernando Cassorla, Verónica Mericq

Source: PLoS ONE, Vol 9, Iss 7, p e102252 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4106823?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/7a882b111e584270a3d413a69c2c5ac0

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MEDICIONES ULTRASONOGRAFICAS Y DE TOMOGRAFIA COMPUTADA DE ADIPOSIDAD Y ALTERACIONES METABOLICAS ASOCIADAS A OBESIDAD EN NIÑOS

Authors: Aníbal Espinoza G, Marcela Reyes J, Francisco Moraga M, M. Jesús Rebollo G, Verónica Mericq, Carlos Castillo D

Source: Revista Chilena de Radiología, Vol 12, Iss 4, Pp 172-176

Subject Terms: adiposidad visceral, niñez, obesidad, tomografía computada, ultrasonografía, Medical physics. Medical radiology. Nuclear medicine, R895-920, Medical technology, R855-855.5

File Description: electronic resource

Relation: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-93082006000400007&lng=en&tlng=en; https://doaj.org/toc/0717-9308

Access URL: https://doaj.org/article/138b1da60bb64b208ec63bf3a489d5d8