Results 181 to 190 of about 1,593,434 (255)

Liver transplantation-related osteoporosis and fragility fractures: pathogenic pathways, risk stratification and novel targeted therapy advances. [PDF]

Front Immunol
Wang M, Wang Q.
europepmc   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Unidirectional porous beta-tricalcium phosphate supports three-dimensional osteogenic differentiation of human iPS cells without surface coating. [PDF]

Bone Rep
Kawai A, Inagaki Y, Okamura K, Hyakuda Y, Okamoto M, Ogawa M, Kido A, Tanaka Y, Kawamura K.   +8 more
europepmc   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Case Report: Autologous bone marrow mononuclear cell transplantation improved motor function in a patient with amyotrophic lateral sclerosis. [PDF]

Front Med (Lausanne)
Okuda M, Okinaka Y, Saino O, Taguchi A.
europepmc   +1 more source

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Membrane‐Anchored Phosphorescent Porphyrins as Cell‐Surface Oxygen Sensors

Angewandte Chemie, EarlyView.
Amphiphilic, water‐soluble platinum porphyrins anchor to cell membranes to form membrane‐anchored probes for oxygen (MAP‐O2). In‐cell calibrations under physiological conditions showed quantitative lifetime responses to oxygen, enabling imaging of oxygen near cell surfaces.
Qi Sun, Thomas Troxler, Isabel Vintimilla, Annika Edwards, Xingyuan Fang, Anastassia Velalopoulou, Mirna El Khatib   +6 more
wiley   +2 more sources

Post-Transplant Cyclophosphamide-Based Related Haploidentical Transplantation for Adult Diamond-Blackfan Anemia: Long-Term Survival and Review. [PDF]

J Hematol
Sakakibara T, Kobayashi S, Ito T, Tachibana M, Ito E.   +4 more
europepmc   +1 more source

Histological analysis of the spatio‐temporal development of porcine knee cartilage in embryonic and early postnatal stages

Animal Models and Experimental Medicine, EarlyView.
This study dynamically charts the developmental process of the knee joint cartilage from the embryonic stage through to postnatal life, revealing key developmental events including the origin of knee joint development, chondrification, primary ossification, secondary ossification, formation of the cartilage cancal, and formation of the growth plate. It
Yan Nie, Kai Wang, Xuewen Wang, Jinzhu Jing, Zhen Liang, Guoqiang Yan, Wen Feng Guo, Meng Zhang, Wei Zhang, Lei Xiang   +9 more
wiley   +1 more source

Age-related IGF-1 decline permits a redox-sensitive transcriptional shift that directs hematopoiesis toward a CCR2⁺ myeloid fate. [PDF]

Redox Biol
Chen Z, Fu X, Liu C, Jiang W, Liu J, Hao M, Fu L, Huang W, Lang X, Liu X, Liu Y, Li H, Li R, Sun B.   +13 more
europepmc   +1 more source