Results 71 to 80 of about 42,486 (210)

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Molecular characterisation of Newcastle disease virus exotic isolate in East Java, Indonesia

Bulgarian Journal of Veterinary Medicine, 2021
Newcastle disease virus (NDV) is ssRNA paramyxovirus causing clinical signs, varying from subclinical infections to 100% mortality in infected chickens. Haemagglutinin-neuraminidase (HN) protein has an important role related to infection and pathogenesis,
N. Kusumarahayu, N. Putri, R. Ernawati, J. Rahmahani, S. Suwarno , F. A. Rantam   +5 more
doaj   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Apolipoprotein F is reduced in humans with steatosis and controls plasma triglyceride‐rich lipoprotein metabolism

Hepatology, EarlyView., 2022
Hepatic APOF transcript levels correlate inversely with plasma TG and hepatic steatosis in humans. ApoF expression in mice promotes VLDL‐TG production and lipoprotein remnant clearance in mice. Abstract Background NAFLD affects nearly 25% of the global population. Cardiovascular disease (CVD) is the most common cause of death among patients with NAFLD,
Audrey Deprince, Nathalie Hennuyer, Sander Kooijman, Amanda C. M. Pronk, Eric Baugé, Viktor Lienard, An Verrijken, Eveline Dirinck, Luisa Vonghia, Eloïse Woitrain, Niels J. Kloosterhuis, Eléonore Marez, Pauline Jacquemain, Justina C. Wolters, Fanny Lalloyer, Delphine Eberlé, Sandrine Quemener, Emmanuelle Vallez, Anne Tailleux, Mostafa Kouach, Jean‐Francois Goossens, Violeta Raverdy, Bruno Derudas, Jan Albert Kuivenhoven, Mikaël Croyal, Bart van de Sluis, Sven Francque, François Pattou, Patrick C. N. Rensen, Bart Staels, Joel T. Haas   +30 more
wiley   +1 more source

Animal models of idiopathic membranous nephropathy: Recent advances and future perspectives

Animal Models and Experimental Medicine, EarlyView.
This review focuses on the evolution of idiopathic membranous nephropathy (IMN) animal models from traditional approaches (Heymann nephritis, C‐BSA, APA) to antigen‐specific models (PLA2R, THSD7A), critically evaluating their advances and limitations in replicating human IMN pathology.
Qiuying Liu, Huixian Bian, Jianhua Liu, Lina Wu, Zhijie Zhang, Hongli Zhao, Xiaosong Qin   +6 more
wiley   +1 more source

Loss of hepatic SMLR1 causes hepatosteatosis and protects against atherosclerosis due to decreased hepatic VLDL secretion

Hepatology, EarlyView., 2022
The role of SMLR1 in lipid metabolism (high fat + cholesterol diet in mice) Abstract Background and Aims The assembly and secretion of VLDL from the liver, a pathway that affects hepatic and plasma lipids, remains incompletely understood. We set out to identify players in the VLDL biogenesis pathway by identifying genes that are co‐expressed with the ...
Willemien van Zwol, Antoine Rimbert, Justina C. Wolters, Marieke Smit, Vincent W. Bloks, Niels J. Kloosterhuis, Nicolette C. A. Huijkman, Mirjam H. Koster, Umesh Tharehalli, Simon M. de Neck, Colin Bournez, Marceline M. Fuh, Jeroen Kuipers, Sujith Rajan, Alain de Bruin, Henry N. Ginsberg, Gerard J. P. van Westen, M. Mahmood Hussain, Ludger Scheja, Joerg Heeren, Philip Zimmerman, Bart van de Sluis, Jan Albert Kuivenhoven   +22 more
wiley   +1 more source

Idiopathic Intracranial Hypertension Is Characterized by a Distinct Proteomic Profile

Annals of Neurology, EarlyView.
Objectives The pathophysiology of idiopathic intracranial hypertension (IIH) is poorly understood and disease‐specific biomarkers are lacking. We aimed to shed light on IIH pathophysiology and identify disease‐specific biomarkers. Methods This prospective cross‐sectional cohort study included patients with new‐onset IIH and age‐, body mass index‐, and ...
Santosh D. Bhosale, Arkadiusz Nawrocki, Johanne J. Korsbæk, Nadja S. Hansen, Fabian Foettinger, Nik Krajnc, Mathias J. Norvig, Niclas L. Eriksen, Stefan Macher, Berthold Pemp, Connar S.J. Westgate, Christian B. Pedersen, Frantz R. Poulsen, Sune Munthe, Gabriel Bsteh, Martin R. Larsen, Rigmor H. Jensen, Dagmar Beier   +17 more
wiley   +1 more source

CD11b+CD43hiLy6Clo splenocyte‐derived macrophages exacerbate liver fibrosis via spleen–liver axis

Hepatology, EarlyView., 2022
A population of splenic monocytes migrate into the liver and shift to macrophages, which account for the exacerbation of liver fibrosis. Abstract Background and Aims Monocyte‐derived macrophages (MoMFs), a dominant population of hepatic macrophages under inflammation, play a crucial role in liver fibrosis progression.
Shaoying Zhang, Dan Wan, Mengchen Zhu, Guihu Wang, Xurui Zhang, Na Huang, Jian Zhang, Chongyu Zhang, Qi Shang, Chen Zhang, Xi Liu, Fanfan Liang, Chunyan Zhang, Guangyao Kong, Jing Geng, Libo Yao, Shemin Lu, Yongyan Chen, Zongfang Li   +18 more
wiley   +1 more source

In Vivo Production of HN Protein Increases the Protection Rates of a Minicircle DNA Vaccine against Genotype VII Newcastle Disease Virus. [PDF]

Vaccines (Basel), 2021
Wang Z, Zhao X, Wang Y, Sun C, Sun M, Gao X, Jia F, Shan C, Yang G, Wang J, Huang H, Shi C, Yang W, Qian A, Wang C, Jiang Y.   +15 more
europepmc   +1 more source