Results 91 to 100 of about 140,774 (244)

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

African trypanosomes

Parasites & Vectors, 2019
African trypanosomes cause human African trypanosomiasis and animal African trypanosomiasis. They are transmitted by tsetse flies in sub-Saharan Africa.
Mathieu Cayla, Federico Rojas, Eleanor Silvester, Frank Venter, Keith R. Matthews   +4 more
doaj   +1 more source

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri, Alessandro Serretti, Marco Menchetti, Benedetta Vai, Francesco Benedetti, Lidia Fortaner‐Uyà, Concetta Crisafulli   +6 more
wiley   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Sleeping sickness in children [PDF]

, 1975
Sleeping Sickness in childrenTwenty-three cases of Sleeping Sickness in children have been analysed at the Arthur Davison Hospital and Mukinge Hospital during the past five years. The overall mortality was 34.8%.
Wenninger, R.L., Balint, O.
core   +2 more sources

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

The diagnostic value of the circadian rhythm gene KLF10 in anxiety‐depressive disorders and its neuroimmune regulatory mechanisms

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the protective role and molecular mechanism of the circadian rhythm‐related gene KLF10, identified as a diagnostic biomarker and therapeutic target in anxiety‐depressive disorder. Model establishment and phenotypes: An anxiety‐depression model was successfully established by chronic restraint stress combined with ...
Anlan Liu, Weifeng Guo, Jianxiang Li, Tiange Zhang, Dan Xu   +4 more
wiley   +1 more source

Influence of Psychiatric Comorbidities on Postoperative Outcomes Following Pediatric Medial Patellofemoral Ligament Reconstruction

Arthroscopy, Sports Medicine, and Rehabilitation, EarlyView.
Purpose To compare postoperative complications, rehabilitation outcomes, and health care utilization in children undergoing primary medial patellofemoral ligament reconstruction for patellofemoral instability with and without a pre‐existing mental illness. Methods The TriNetX U.S.
Haad A. Arif, Pearce Lane, Shamar T. Elliott, Amit Momaya, Kevin A. Williams   +4 more
wiley   +1 more source

Ixekizumab With Tirzepatide Achieved Greater Disease Control Than Ixekizumab Alone in Adults With Psoriatic Arthritis and Overweight or Obesity: Results From a Randomized Clinical Trial

Arthritis &Rheumatology, EarlyView.
Objective Overweight or obesity is prevalent in 72% to 82% of individuals with psoriatic arthritis (PsA). We assessed the efficacy and safety of ixekizumab (IXE) concomitantly administered with tirzepatide (TZP) compared with IXE alone in adult participants with active PsA and overweight with at least one weight‐related comorbidity or obesity.
Joseph F. Merola, Philip Mease, Alan Kivitz, Naveed Sattar, Laura C. Coates, Daniel Aletaha, Cynthia E. Kartman, Peter Fischer, Luna Sun, Píndaro Martínez‐Osuna, Andris Kronbergs, Purvi Prajapati, Anabela Cardoso, Mark C. Genovese, Alexis Ogdie   +14 more
wiley   +1 more source

Expert Perspectives: Defining and Managing Progressive Pulmonary Fibrosis in Systemic Sclerosis

Arthritis &Rheumatology, EarlyView.
Systemic sclerosis–associated interstitial lung disease (SSc‐ILD) is one of the leading causes of morbidity and mortality in SSc, affecting up to three‐quarters of patients. The disease course is highly heterogeneous, ranging from indolent, nonprogressive forms to rapidly progressive pulmonary fibrosis (PPF).
Devis Benfaremo, Dinesh Khanna, Corrado Campochiaro, Vincent Cottin, Fabrizio Luppi, Marco Matucci‐Cerinic, Gianluca Moroncini, Yannick Allanore   +7 more
wiley   +1 more source