Results 71 to 80 of about 46,284 (262)

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

Orphanet Journal of Rare Diseases, 2018
Background Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency are long-chain fatty acid oxidation disorders with particularly high morbidity and mortality.
Amelie S. Lotz-Havla, Wulf Röschinger, Katharina Schiergens, Katharina Singer, Daniela Karall, Vassiliki Konstantopoulou, Saskia B. Wortmann, Esther M. Maier   +7 more
doaj   +1 more source

Tropomyosin 1 Promotes Platelet Adhesion and Clot Contraction Separate from Its Roles in Developmental Hematopoiesis

Advanced Science, EarlyView.
ABSTRACT Genome‐wide association studies (GWAS) link the Tropomyosin 1 (Tpm1) locus to quantitative blood trait variation, but related mechanisms are unclear. Tpm1 encodes an actin‐binding protein that regulates actin filament diversity, cell adhesion, signaling, and actomyosin contractility.
Po‐Lun Kung, Victor Tsao, Alina D Peshkova, Oscar A. Marcos‐Contreras, Kim Ha, Brian M Dulmovits, Nkemdilim Okoli, Anvi Sinha, Gennadiy Fonar, Rong Qiu, Rolf D Bates, Janelle Yeboah, Carson Shalaby, Tyler Truex, Soomin Jeong, Edna C Hardeman, Peter W Gunning, Vladimir R Muzykantov, Jacob W Myerson, Christopher S Thom   +19 more
wiley   +1 more source

Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA

Scientific Reports
Lysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López, Luisa F. Prada, Carlos J. Alméciga-Díaz   +2 more
doaj   +1 more source

Mucopolysaccharidosis or Skeletal Dysplasia? Clinical and Radiologic Clues for Differential Diagnosis Based on Difficult Cases

JCRPE
Objective: The skeletal abnormalities of mucopolysaccharidosis (MPS) and skeletal dysplasia (SD) may be similar and even indistinguishable. This study aims to elucidate clinical clues and overlapping features that may assist in the different diagnosis ...
Ayşe Akyüz, Hakan Atalar, Kübra Çilesiz, Aslı İnci, İlyas Okur, Leyla Tümer, Fatih Ezgü   +6 more
doaj   +1 more source

A 3D Human Bone and Bone Marrow‐on‐a‐Chip Model for In Vitro Bone Remodeling and Immune Cell Maintenance

Advanced Science, EarlyView.
This study presents a human Bone (and Bone Marrow)‐on‐a‐Chip model based on native human bone scaffolds and autologous cells. Dynamic perfusion and sequential cell seeding replicate the physiological bone remodeling process in vitro, enabling the long‐term culture of functional, mature bone marrow immune subpopulations.
Nina Stelzer, Melanie‐Jasmin Ort, Kristian Händler, Emely Bortel, Ioanna Maria Dimitriou, Martin Textor, Georg N. Duda, Janosch Schoon, Uwe Marx, Uwe Kornak, Annika Winter, Bernhard Hesse, Stefanie Donner, Sebastian Hardt, Oliver Klein, Simon Reinke, Malte Spielmann, Sven Geißler   +17 more
wiley   +1 more source

High‐Dose L‐Serine Supplementation During Febrile Decompensation in SARS1 Deficiency: A Case Report and Review of the Literature

JIMD Reports
Seryl‐tRNA synthetase 1 (SARS1) deficiency is a rare autosomal recessive disorder presenting with neurodevelopmental delay, deafness, cardiomyopathy, and fatal metabolic decompensation triggered by febrile episodes.
Victor Andrès Valle, Arnaud Wiedemnan, Eva Feigerlova, David Coelho, Elise Jeannesson, Irina Rotaru, Marc Merten, Alexandre Raharimanana, François Feillet, Jean‐Marie Ravel   +9 more
doaj   +1 more source

Chiral Nanoparticles Suppress Inflammatory Infiltration to Promote Extracellular Matrix Remodeling for Ectopia Lentis Therapy

Advanced Science, EarlyView.
L‐cysteine‐configured chiral polyurethane nanoparticles suppress ocular inflammation and reduce extracellular matrix (ECM) degradation in ectopia lentis by regulating macrophages polarization and inhibiting nuclear factor kappa B signaling pathway. By promoting zonular fiber‐associated protein restoration and tissue repair, this minimally invasive ...
Yinuo Wen, Yan Yang, Haihan Gao, Yan Liu, Xinyue Wang, Linghao Song, Ruohong Li, Ao Miao, Jie Xu, Zhennan Zhao, Dan Li, Shenjie Peng, Linzhao Li, Min Zhang, Yonghang Liu, Liren Wang, Tianhui Chen, Yongxiang Jiang   +17 more
wiley   +1 more source

Loss of E3 Ubiquitin Ligase RINES via CpG Methylation Relieves Suppression of STAT3 and MYC, Facilitating Multiple Tumorigeneses

Advanced Science, EarlyView.
Dysregulated protein modifications drive tumorigenesis. RINES, an E3 ubiquitin ligase, represses tumor cell proliferation and metastasis by facilitating RING domain‐dependent, ubiquitin–proteasome‐mediated degradation of STAT3 and MYC, which consequently restrains cancer stemness and oncogenic progression.
Lili Li, Ka Man Ng, Xingsheng Shu, Xiaoxue Chai, Kai Yau Wong, Gopesh Srivastava, Anthony T.C. Chan, Wai Yee Chan, Qian Tao   +8 more
wiley   +1 more source

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +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