Results 61 to 70 of about 275,886 (261)

Long Noncoding RNA PCALRx Interacts with Pyruvate Carboxylase to Drive Multi‐Organ Developmental Toxicity in Zebrafish Embryos Exposed to Amoxicillin

Advanced Science, EarlyView.
Embryonic amoxicillin exposure disrupts multi‐organ development in zebrafish larvae through a lncRNA–metabolic enzyme regulatory axis. PCALRx associates with pyruvate carboxylase, promotes PC protein ubiquitination, and impairs mitochondrial energy metabolism, while vitamin B1 partially restores PC‐centered metabolic function and developmental outcomes.
Yixue Yao, Ping Jiang, Xinli Zhou, Mengying Yin, Qiong Luo, Hui Wang   +5 more
wiley   +1 more source

Exploring the Impact of Meat Alternative Labeling Regulations on the U.S. Meat Consumption Patterns

Agribusiness, EarlyView.
ABSTRACT The global demand for conventional meat continues to rise, but it is also associated with substantial environmental and health challenges. In response, meat alternatives have gained popularity, sparking debates over meat alternative labeling regulations. This study investigates the effects of meat alternative labeling regulations in the United
Jeong Hun Ji, Sang Hyeon Lee
wiley   +1 more source

Ultrasonography Guided Gestational Age Estimation Using Transcerebellar Diameter in Third Trimester Pregnancy

Journal of Nobel Medical College
Background: The correct estimation of gestational age is of great importance for managing pregnancy. Determining gestational age by the first-trimester scan is considered the gold standard, but classical calculation from the last menstrual period is also
Sandeep Acharya, Saurav Poudel, Bivusha Parajuli, Pratibha Kaphle   +3 more
doaj   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Exploring reference ranges for thyroid-stimulating hormone in neonatal screening tests for preterm infants: a 5-year retrospective study

Frontiers in Pediatrics
PurposeCurrently, the same thyroid-stimulating hormone (TSH) cutoffs are used for term and preterm infants. Our objective was to determine TSH reference ranges and cut-off values for preterm infants born at different gestational ages (GA), birth weight ...
Xing Huang, Xing Huang, Fei Xiong, Fei Xiong, Shulan Zhu, Shulan Zhu, Fan Yang, Fan Yang   +7 more
doaj   +1 more source

Epigenetic gestational age acceleration: a prospective cohort study investigating associations with familial, sociodemographic and birth characteristics

Clinical Epigenetics, 2018
Background Gestational age at delivery is associated with health and social outcomes. Recently, cord blood DNA methylation data has been used to predict gestational age.
Jasmine N. Khouja, Andrew J. Simpkin, Linda M. O’Keeffe, Kaitlin H. Wade, Lotte C. Houtepen, Caroline L. Relton, Matthew Suderman, Laura D. Howe   +7 more
doaj   +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

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source