Rachel L. Smith

ORCID: 0009-0001-5318-219X
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About
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Research Areas
  • Adipose Tissue and Metabolism
  • COVID-19 Clinical Research Studies
  • SARS-CoV-2 and COVID-19 Research
  • Pituitary Gland Disorders and Treatments
  • Adrenal Hormones and Disorders
  • Growth Hormone and Insulin-like Growth Factors
  • Hemoglobinopathies and Related Disorders
  • Mosquito-borne diseases and control
  • Immunotherapy and Immune Responses
  • Viral Infections and Vectors
  • Hematopoietic Stem Cell Transplantation
  • Erythropoietin and Anemia Treatment
  • Pregnancy and preeclampsia studies
  • Tryptophan and brain disorders
  • Genetics and Neurodevelopmental Disorders
  • Vector-borne infectious diseases
  • Neuroinflammation and Neurodegeneration Mechanisms
  • Receptor Mechanisms and Signaling
  • Stress Responses and Cortisol
  • Adrenal and Paraganglionic Tumors
  • Genomic variations and chromosomal abnormalities
  • Exercise and Physiological Responses
  • Bipolar Disorder and Treatment
  • Thermoregulation and physiological responses
  • Congenital heart defects research

University of Cambridge
2024

National Institute of Allergy and Infectious Diseases
2020-2024

National Institute of Mental Health
2024

Vector (United States)
2021-2023

National Institute of Mental Health
2023

University of Tartu
2023

Universitat Autònoma de Barcelona
2023

University Hospital Kralovske Vinohrady
2023

National Institutes of Health
1961-2021

University of Gothenburg
2019

10.1016/0006-291x(61)90088-2 article EN Biochemical and Biophysical Research Communications 1961-09-01

10.1016/0003-2697(62)90114-8 article EN Analytical Biochemistry 1962-04-01
Elena Valassi Antoine Tabarin Thierry Brue Richard A. Feelders Martín Reincke and 94 more Romana T. Netea‐Maier Miklós Tóth Sabina Zacharieva Susan M. Webb Stylianos Tsagarakis Philippe Chanson Marija Pfeiffer Michael Droste Irina Komerdus Darko Kaštelan Dominique Maiter Olivier Chabre Holger Franz Alicia Santos Christian J. Strasburger Peter Trainer John Newell‐Price Óskar Ragnarsson NULL AUTHOR_ID NULL AUTHOR_ID Alberto Giacinto Ambrogio Gloria Aranda Maura Arosio Maria Balomenaki P. Beck-Peccoz C Berr-Kirmair M. Bolanowski Jens Bollerslev Brue Thierry Davide Carvalho Francesco Cavagnini Emanuel Christ F Demtröder Zentrum fur Endokrinologi Judit Dénes Christina Dimopoulou Alexander Dreval Tina Dušek E Erdinc Johan Arild Evang Julia Fazel Simona Fica Ezio Ghigo Miklós Góth Yona Greenman V Greisa Ilana Halperin Felicia A. Hanzu A. R. M. M. Hermus Gudmundur Johannsson Peter Kamenický A Kasperlik-Załuska Jasmin Kirchner Kastelan Darko Ivana Kraljević Aleksandra Kruszyńska Ioana Maria Lambrescu Sean M. Lang A Luger N Marpole Sorina Martin Monique Martinie O Moros John Newell‐Price Maria Orbetzova Isabel Paiva Francesca Pecori Giraldi Alberto M. Pereira James Pickel Valdis Pīrāgs Óskar Ragnarsson AD Reghina Pedro Riesgo Myron Roberts S. H. P. P. Roerink Olga Roig Chris Rowan П. А. Руденко MA Sahnoun Javier Salvador HA Sigurjonsdottir Tanja Škorić Polovina Rachel L. Smith Barbara Stachowska Günter K. Stalla Judit Tőke Esther Ubiña S Vinay Margreet A. E. M. Wagenmakers Sigbritt Werner Jacques Young Piotr Zdunowski Kathrin Zopf Stephanie Zopp Ioana Zosin

Patients with Cushing's syndrome (CS) have increased mortality. The aim of this study was to evaluate the causes and time death in a large cohort patients CS establish factors associated mortality.In study, we analyzed 1564 included European Registry on (ERCUSYN); 1045 (67%) had pituitary-dependent CS, 385 (25%) adrenal-dependent 89 (5%) an ectopic source 45 (3%) other causes. median (IQR) overall follow-up ERCUSYN 2.7 (1.2-5.5) years.Forty-nine died at analysis; 23 (47%) 6 (12%) 18 (37%)...

10.1530/eje-19-0464 article EN European Journal of Endocrinology 2019-09-03
Vincent Amodru Amandine Ferrière Antoine Tabarin Fréderic Castinetti Stylianos Tsagarakis and 95 more Miklós Tóth Richard A. Feelders Susan M. Webb Martín Reincke Romana T. Netea‐Maier Darko Kaštelan Атанаска Еленкова Dominique Maiter Óskar Ragnarsson Alicia Santos Elena Valassi C Amaral Alberto Giacinto Ambrogio Gloria Aranda Maura Arosio Maria Balomenaki C Berr-Kirmair Jérôme Bertherat Marek Bolanowski Jens Bollerslev Helena Cardoso Davide Carvalho Francesco Cavagnini P Ceccato Olivier Chabre Philippe Chanson Emanuel Christ F Demtröder Zentrum fur Endokrinologie Judit Dénes Timo Deutschbein Christina Dimopoulou Alexander Dreval Michael Droste J Duarte Tina Dušek Emre Ertürk Johan Arild Evang Christian Fajardo Julia Fazel Richard A. Feelders Simona Fica Rogelio García-Centeno Ezio Ghigo Miklós Góth Magdalena Godlewska Yona Greenman Ilana Halperin Felicia A. Hanzu A. R. M. M. Hermus Gudmundur Johannsson Erika Hubina A Gilis Januszewska Peter Kamenický A Kasperlik-Załuska Jasmin Kirchner Darko Kaštelan Irina Komerdus Ivana Kraljević Michal Kršek Aleksandra Kruszyńska Cristina Lamas Ioana Maria Lambrescu Sean M. Lang A Luger Dominique Maiter N Marpole Sorina Martin Monique Martinie M J Martins Oliveira O Moros Romana T. Netea‐Maier John Newell‐Price Maria Orbetzova Isabel Paiva Francesca Pecori Giraldi Juan Carlos Percovich Alberto M. Pereira Marija Pfeifer James Pickel Valdis Pīrāgs Óskar Ragnarsson Aura Reghină Martín Reincke Pedro Riesgo Myron Roberts S. H. P. P. Roerink Olga Roig Chris Rowan П. А. Руденко Javier Salvador Alicia Santos C Scaroni Helga Ágústa Sigurjónsdóttir Tanja Škorić Polovina Rachel L. Smith

Abstract Objective To evaluate whether age-related differences exist in clinical characteristics, diagnostic approach, and management strategies patients with Cushing's syndrome (CS) included the European Registry on Syndrome (ERCUSYN). Design Cohort study. Methods We analyzed 1791 CS, of whom 1234 (69%) had pituitary-dependent CS (PIT-CS), 450 (25%) adrenal-dependent (ADR-CS), 107 (6%) an ectopic source (ECT-CS). According to WHO criteria, 1616 (90.2%) were classified as younger (<65...

10.1093/ejendo/lvad008 article EN European Journal of Endocrinology 2023-02-07
Kristina Isand Richard A. Feelders Thierry Brue Miklós Tóth Timo Deutschbein and 95 more Martín Reincke Michal Kršek Alicia Santos Frank Demtröder Olivier Chabre Christian J. Strasburger Anna Aulinas Masó Vallo Volke Alberto M. Pereira R Lohmann Ignasi Gich Saladich Cláudia Amaral Alberto Giacinto Ambrogio Gloria Aranda Maura Arosio Maria Balomenaki P. Beck-Peccoz C Berr-Kirmair Jérôme Bertherat Marek Bolanowski Jens Bollerslev Brue Thierry Helena Cardoso Davide Carvalho Francesco Cavagnini P Ceccato Olivier Chabre P. Chanson Emanuel Christ F Demtröder Zentrum fur Endokrinologie Judit Dénes Timo Deutschbein Christina Dimopoulou Alexander Dreval Michael Droste J Duarte Tina Dušek Emre Ertürk Johan Arild Evang Christian Fajardo Julia Fazel Richard A. Feelders Simona Fica Rogelio García-Centeno Ezio Ghigo Miklós Góth Yona Greenman Ilana Halperin Felicia A. Hanzu A. R. M. M. Hermus Gudmundur Johannsson Erika Hubina Peter Kamenický A Kasperlik-Załuska Jasmin Kirchner Darko Kaštelan Irina Komerdus Ivana Kraljević Michal Kršek Aleksandra Kruszyńska Cristina Lamas Ioana Maria Lambrescu Sean M. Lang A Luger Dominique Maiter N Marpole Sorina Martin Monique Martinie M J Martins Oliveira O Moros Romana T. Netea‐Maier John Newell‐Price Maria Orbetzova Isabel Paiva Francesca Pecori Giraldi Juan Carlos Percovich Alberto M. Pereira Melissa R. Pfeiffer James Pickel Valdis Pīrāgs Óskar Ragnarsson Aura Reghină Martín Reincke Pedro Riesgo Myron Roberts S. H. P. P. Roerink Chris Rowan П. А. Руденко Mariam Sahnoun Javier Salvador Alicia Santos C Scaroni Helga Ágústa Sigurjónsdóttir Tanja Škorić Polovina Rachel L. Smith

Abstract Objective The aim of this study was to evaluate the prevalence venous thromboembolism (VTE) in patients included European Registry on Cushing's syndrome (ERCUSYN), compare their clinical characteristics with those who did not develop VTE and identify risk factors for VTE. Design A retrospective observational cohort study. Methods Data extraction from registry taken February, 7, 2022. At time there were 2174 diagnosed (CS) 95 VTEs reported database. Results Of events 70 (74%)...

10.1093/ejendo/lvad176 article EN cc-by European Journal of Endocrinology 2023-12-22

Many genes are linked to psychiatric disorders, but genome-wide association studies (GWAS) and differential gene expression (DGE) analyses in post-mortem brain tissue often implicate distinct sets. This disconnect impedes therapeutic development, which relies on integrating genetic genomic insights. We address this issue using a novel multivariate technique that reduces DGE bias by leveraging co-expression networks controlling for confounds such as drug exposure. Deep RNA sequencing was...

10.1101/2025.02.14.638357 preprint EN public-domain bioRxiv (Cold Spring Harbor Laboratory) 2025-02-16
Elena Valassi Holger Franz Thierry Brue Richard A. Feelders Romana T. Netea‐Maier and 93 more Stylianos Tsagarakis Susan M. Webb Maria Yaneva Martín Reincke Michael Droste Irina Komerdus Dominique Maiter Darko Kaštelan Philippe Chanson Marija Pfeifer Christian J. Strasburger Miklós Tóth Olivier Chabre Michal Kršek Carmen Fajardo Marek Bolanowski Alicia Santos Peter Trainer John Wass Antoine Tabarin NULL AUTHOR_ID NULL AUTHOR_ID Alberto Giacinto Ambrogio Gloria Aranda Maura Arosio Maria Balomenaki P. Beck-Peccoz C Berr-Kirmair Jens Bollerslev Davide Carvalho Francesco Cavagnini Emanuel Christ Frank Demtröder Judit Dénes Christina Dimopoulou Alexander Dreval Tina Dušek E Erdinc Johan Arild Evang Julia Fazel Simona Fica Ezio Ghigo Miklós Góth Yona Greenman V Greisa Ilana Halperin Felicia A. Hanzu A. R. M. M. Hermus Gudmundur Johannsson Peter Kamenický A Kasperlik-Załuska Jasmin Kirchner Ivana Kraljević Aleksandra Kruszyńska Ioana Maria Lambrescu Sean M. Lang A Luger N Marpole Sorina Martin Monique Martinie O Moros John Newell‐Price Maria Orbetzova Isabel Paiva Francesca Pecori Giraldi Alberto M. Pereira James Pickel Valdis Pīrāgs Óskar Ragnarsson Aura Reghină Pedro Riesgo Myron Roberts S. H. P. P. Roerink Olga Roig Chris Rowan П. А. Руденко Mariam Sahnoun Javier Salvador HA Sigurjonsdottir Tanja Škorić Polovina Rachel L. Smith Barbara Stachowska Günter K. Stalla Judit Tőke Esther Ubiña S Vinay Margreet A. E. M. Wagenmakers Sandy Werner Jacques Young Piotr Zdunowski Kathrin Zopf Stephanie Zopp Ioana Zosin

Surgery is the definitive treatment of Cushing's syndrome (CS) but medications may also be used as a first-line therapy. Whether preoperative medical (PMT) affects postoperative outcome remains controversial.(1) Evaluate how frequently PMT given to CS patients across Europe; (2) examine differences in characteristics who receive and those undergo primary surgery (3) determine if influences pituitary-dependent (PIT-CS).1143 entered into ERCUSYN database from 57 centers 26 countries....

10.1530/eje-17-0997 article EN European Journal of Endocrinology 2018-02-13

Angiotensin-converting enzyme 2 (ACE2) is the established cellular receptor for SARS-CoV-2. However, it unclear whether ACE1 inhibitors (e.g., lisinopril) or angiotensin blockers losartan) alter tissue ACE2 expression. This study sought to determine lisinopril losartan, as monotherapies in combination, changes levels of healthy male and female mice. Mice received (10 mg/kg/day), losartan both 21 days via drinking water. A control group water without drug. The protein index (ACE2...

10.3389/fphar.2022.798349 article EN cc-by Frontiers in Pharmacology 2022-03-10

BACKGROUND: Severe malaria is associated with impaired nitric oxide (NO) synthase (NOS)–dependent vasodilation, and reversal of this deficit improves survival in murine models. Malaria might have selected for genetic polymorphisms that increase endothelial NO signaling now contribute to heterogeneity vascular function among humans. One protein potentially alpha globin, which, mouse models, interacts NOS (eNOS) negatively regulate signaling. We sought evaluate the impact globin gene deletions...

10.1161/circulationaha.123.066003 article EN Circulation 2024-12-05

Abstract Background Babesia rossi is a leading cause of morbidity and mortality among the canine population sub-Saharan Africa, but pathogenesis remains poorly understood. Previous studies B. infection were derived from clinical cases, in which neither onset nor infectious inoculum was known. Here, we performed controlled inoculations canines evaluated disease progression through tests whole blood transcriptomic profiling. Results Two subjects administered low (10 4 parasites) while three...

10.1186/s12864-021-07889-4 article EN cc-by BMC Genomics 2021-08-16

Brain swelling is associated with death from cerebral malaria, but it unclear whether brain caused by edema or vascular congestion-two pathological conditions distinct effects on tissue hemoglobin concentrations. We used near-infrared spectroscopy (NIRS) to noninvasively study microvascular concentrations in 46 Malawian children malaria. Cerebral malaria was defined the presence of parasite Plasmodium falciparum a blood smear, Blantyre coma score 2 less, and retinopathy. Children...

10.1126/scitranslmed.adh4293 article EN Science Translational Medicine 2023-09-13

The rat offers a uniquely valuable animal model in neuroscience, but we currently lack an individual-level understanding of the vivo brain network. Here, leveraging longitudinal measures cortical magnetization transfer ratio (MTR) from neuroimaging between postnatal days 20 (weanling) and 290 (mid-adulthood), design implement computational pipeline that captures network structural similarity (MIND, morphometric inverse divergence) each 53 distinct areas. We first characterized normative...

10.1101/2024.12.20.629759 preprint EN cc-by-nc-nd bioRxiv (Cold Spring Harbor Laboratory) 2024-12-21

Abstract Bipolar disorder (BD) is a debilitating affecting ~ 1% of the world’s population. Although many common and some rare alleles are associated with this complex disorder, little known about role de novo variation. For first time, study investigates mutations (DNMs) in families ascertained from genetically isolated populations. Exomes approximately 1200 individuals consisting 214 trios were quality controlled analyzed using Genome Analysis Toolkit (GATK). DNMs called HAIL, followed by...

10.21203/rs.3.rs-3381851/v1 preprint EN cc-by Research Square (Research Square) 2023-10-05

Rationale Alpha globin was recently discovered in the endothelium of murine resistance arteries, where it regulates diffusion nitric oxide. In humans, alpha is expressed by two distinct loci, HBA1 and HBA2, with HBA2 expression predominating red cell progenitors. However, gene each specific locus vasculature, as well cellular localization abundance human vascular endothelium, currently unknown. Methods Small arteries from omentum subcutaneous adipose were collected patients during clinically...

10.1096/fasebj.2020.34.s1.06600 article EN The FASEB Journal 2020-04-01

Alpha globin binds to endothelial nitric oxide (NO) synthase (eNOS) and limits the diffusion of NO from cells into vascular smooth muscle. Previously, we demonstrated that pharmacologic disruption alpha globin-eNOS binding enhanced NOS-dependent vasodilation in human arteries. Here, explore hypothesis individuals with gene deletions will have reduced expression resistance arteries altered arterial vasoreactivity. To test this hypothesis, screened healthy Black Americans (clinical trial #...

10.1096/fasebj.2022.36.s1.r5073 article EN The FASEB Journal 2022-05-01

The angiotensin-converting enzyme 2 (ACE2) is an established receptor and entry point for the novel SARS-CoV-2 coronavirus, as spike protein on viral envelope binds ACE2 receptor. Published histological profiling revealed to be highly expressed human lung alveolar epithelial cells enterocytes of small intestine, well arterial venous endothelial cells. Given widespread abundance across tissues, there has been much speculation regarding whether ACE inhibitors (ACEi) and/or Angiotensin Receptor...

10.1096/fasebj.2021.35.s1.04584 article EN The FASEB Journal 2021-05-01

Alpha globin, but not beta is expressed in mouse resistance arteries where it binds endothelial nitric oxide (NO) synthase (eNOS) and limits NO signaling. To understand this signaling pathway humans, we studied omental arteries. Omental tissue was collected during clinically indicated surgery on protocol 13-C-0176 transferred to the lab ice. Human 80 200 um diameter were microdissected, cannulated, perfused with cold PBS expel blood. We measured gene expression of HBA1 (2658 ± 1190...

10.1096/fasebj.2021.35.s1.02458 article EN The FASEB Journal 2021-05-01

ABSTRACT Angiotensin-converting enzyme 2 (ACE2) is the established cellular receptor for SARS-CoV-2. However, it unclear whether ACE1 inhibitors (e.g., lisinopril) or angiotensin blockers losartan) alter tissue ACE2 expression. This study sought to determine lisinopril losartan, as monotherapies in combination, change levels of healthy male and female mice. Mice received (10 mg/kg/day), losartan both 21 days via drinking water. A control group water without drug. protein index (ACE2 / total...

10.1101/2021.10.19.465025 preprint EN bioRxiv (Cold Spring Harbor Laboratory) 2021-10-20

Abstract Background: Babesia rossi is a leading cause of morbidity and mortality among the canine population sub-Saharan Africa, but pathogenesis remains poorly understood. Previous studies B. infection were derived from clinical cases, in which neither onset nor infectious inoculum was known. Here, we performed controlled inoculations canines evaluated disease progression through tests whole blood transcriptomic profiling. Results: Three subjects administered low (10 4 parasites) while two...

10.21203/rs.3.rs-267384/v1 preprint EN cc-by Research Square (Research Square) 2021-03-04
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