Results 31 to 40 of about 20,779 (267)

Foetal Haemoglobin as a Marker of Bone Marrow Suppression Secondary to Anti-Kell Alloimmunisation

International Journal of Neonatal Screening, 2023
Anti-Kell alloimmunisation is a potentially severe minor blood group type incompatibility, not only as a cause of haemolytic disease of the foetus and newborn, but also due to the destruction of red blood cells (RBC) and mature form in the bone marrow ...
Rodrigo Alfredo Morales Painamil, José Manuel González de Aledo-Castillo, Marta Teresa-Palacio, Ana Argudo-Ramírez, Rosa M. López-Galera, Abraham J. Paredes-Fuentes, Victoria Aldecoa-Bilbao, Miguel Alsina-Casanova   +7 more
doaj   +1 more source

NFYB Integrates Hormonal Signals into Tissue Allometry by Promoting Protein Biosynthesis

Advanced Science, EarlyView.
In the American cockroach, NFYB acts as a spatiotemporin that translates distinct hormonal cues into tissue‐specific allometry. Juvenile hormone activates NFYB in the early fat body, while 20‐hydroxyecdysone induces it in late wing pads. NFYB then promotes protein biosynthesis via core translational machinery, driving differential growth across the ...
Fangfang Liu, Shiming Zhu, Sishi Xia, Xiaoshuai Zhang, Qin Li, Zhanquan Zeng, Yuqing Liu, Wanyin Liang, Guanyu Zhou, Erxia Du, Suning Liu, Sheng Li   +11 more
wiley   +1 more source

Sustaining benefits of nutritional therapy in young adults with phenylketonuria - A 2 year prospective study

Molecular Genetics and Metabolism Reports, 2020
Introduction: Phenylketonuria (PKU) is an inborn error of metabolism, which is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH). Life-long Phe-free diet impairs quality of life, especially in adolescents and young adults which take ...
Johannes Krämer
doaj   +1 more source

Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles

Scientific Reports, 2022
Mucopolysaccharidosis IV A (MPS IVA) is a lysosomal disorder caused by mutations in the GALNS gene. Consequently, the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate accumulate in the lysosomal lumen.
Andrés Felipe Leal, Javier Cifuentes, Carlos Emilio Torres, Diego Suárez, Valentina Quezada, Saúl Camilo Gómez, Juan C. Cruz, Luis H. Reyes, Angela Johana Espejo-Mojica, Carlos Javier Alméciga-Díaz   +9 more
doaj   +1 more source

T2T Genome Assembly and Multi‐Omics Data Reveal Terrestrial Adaptation and Mucus Biosynthesis in Tropical Leatherleaf Slug (Laevicaulis alte)

Advanced Science, EarlyView.
A gap‐free genome assembly and multi‐omics comparison of the terrestrial slug Laevichaulis alte with an aquatic relative reveal that expansion of the VEGF family orchestrates mucus production, lipid metabolism, and immune defense—highlighting key molecular innovations for conquering life on land.
Gang Wang, Shaofang He, Zhongkai Wang, Aobo Pang, Xiaoli Sun, Rongchen Liu, Fang Wang, Sisi Chen, Zhijuan Bian, Dongcheng Wei, Liuhan Wu, Siyao Zhao, Qiuting Ji, Yiqi Sun, Niying Sun, Yushinta Fujaya, Boping Tang, Kianann Tan, Daizhen Zhang, Lianfu Chen   +19 more
wiley   +1 more source

Case-control study about the acceptance of Pegvaliase in Phenylketonuria

Molecular Genetics and Metabolism Reports, 2020
Introduction: Pegvaliase is a novel enzyme substitution therapy approved by the European Drug Administration (EDA) in May 2019 for the treatment of Phenylketonuria (PKU) in adults and children ≥16 years of age.
Johannes Krämer
doaj   +1 more source

Characterization and expression of domains of Alphaherpesvirus bovine 1/5 envelope glycoproteins B in Komagataella phaffi

BMC Veterinary Research, 2023
Background Bovine herpes virus (BoHV 1 and BoHV-5) are the causative agents of infectious bovine rhinotracheitis (IBR). IBR is responsible for important economic losses in the cattle industry.
Juan Sebastián Quintero Barbosa, Heidy Yohana Triana Rojas, Janneth Gonzalez, Angela Johana Espejo-Mojica, Carlos Javier Alméciga Díaz, María Fernanda Gutierrez   +5 more
doaj   +1 more source

Integrative Omics Analysis Reveals the Regulation of Hypoxia Tolerance in Large Yellow Croaker (Larimichthys crocea) via the Lipoic Acid Synthase (lias) Gene

Advanced Science, EarlyView.
Lipoic acid synthase (lias) can regulate α‐KG levels through lipoylation, thereby negatively regulating HIF‐1α protein levels via PHD under hypoixa. The Hap2 allele of lias exhibits lower expression levels than Hap1, leading to the accumulation of more HIF‐1α protein and thereby enhancing hypoxia tolerance. ABSTRACT Hypoxia stress seriously affects the
Jie Ding, Songpeng Jia, Ran Meng, Xuelei Wang, Xiongfei Wu, Weiliang Shen, Yibo Zhang, Junquan Zhu   +7 more
wiley   +1 more source

Molecular and Cellular Hallmarks of Age‐Related Vestibular Hair Cell Degeneration

Advanced Science, EarlyView.
This study utilizes single‐cell RNA‐seq transcriptomes, advanced imaging, and electrophysiology to examine universal and cell‐type‐specific aging signatures of vestibular hair cells. The study shows that impaired hair bundle function is a key driver of age‐related vestibular dysfunction.
Samadhi Kulasooriya, Huizhan Liu, Sarath Vijayakumar, Celia Bloom, Zhenhang Xu, Shu Tu, Benjamin J. Borgmeier, Mi Zhou, Litao Tao, Bechara Kachar, David Z. He   +10 more
wiley   +1 more source

Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

Case Reports in Pediatrics, 2018
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins   +4 more
doaj   +1 more source