Results 311 to 320 of about 231,673 (393)

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Identification of a new population of Tnn⁺ progenitors to form tendon enthesis fibrocartilage. [PDF]

Bone Res
Zhang T, Zhang L, Yuan Z, Wang L, Hu J, Skutella T, Lu H.   +6 more
europepmc   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Inhibition of Fibroblast Activation Protein‐α Ameliorates Intervertebral Disc Degeneration via Reduced Vascular Invasion in Cartilage Endplate

Cell Proliferation, EarlyView.
Schematic illustration showing that FAP‐α promoted angiogenesis, cytokine release and ECM degradation in the CEP degeneration of the intervertebral disc through upregulating the PI3K/Akt/HIF‐1α/VEGFA pathway. ABSTRACT Intervertebral disc degeneration (IDD) is a primary cause of low back pain, with the development of new blood vessels being a key ...
Hao‐Wei Xu, Sheng‐Jie Chang, Shuo Wang, Xiao‐Wei Liu, Shan‐Jin Wang   +4 more
wiley   +1 more source

The Chloride Channel Regulator, Calcium-Activated-1 Is Expressed in Synoviocytes and Articular Chondrocytes in Health and Disease. [PDF]

J Histochem Cytochem
Bushe J, Fürstenau J, Bartenschlager F, Dökel S, Jovanovic VM, Rösch G, Jenei-Lanzl Z, Zaucke F, Dietert K, Gruber AD.   +9 more
europepmc   +1 more source

Harnessing Metabolic Priming to Engineer Human Nucleus Pulposus Macromass Overcoming Scalability‐Phenotype Tradeoff

Cell Proliferation, EarlyView.
Human platelet lysate acts as a metabolic primer for hNPCs, enhancing fatty acid oxidation to drive proliferation while preserving phenotype. This enables construction of high‐quality, large‐size macromasses without necrotic defects, demonstrating exceptional efficacy in repairing degenerated discs in situ and providing a novel paradigm for ...
Yingbo Wang, Ou Hu, Jian Wu, Sha Huang, Peng Lin, Pulin Yan, Yangyang Li, Huaijian Jin, Yutong Wu, Jun Zhu, Jungang Pu, Bo Hu, Jian He, Yibo Gan, Peng Liu   +14 more
wiley   +1 more source

lncRNA MALAT1-mediated regulation of cholesterol-oxidative stress-iron metabolic dysregulation by paeoniflorin in osteoarthritic chondrocytes. [PDF]

Pharm Biol
Fu C, Lan S, Lin Y, Chen D, Yang Z, Chen C, Chen Y, Yuan Y, Zhong W, Lin Q, Huang Z.   +10 more
europepmc   +1 more source

An unusual presentation of osteochondrosis in the elbows and tarsi of a Friesian colt

Equine Veterinary Education, EarlyView.
Summary This case report describes the clinical, diagnostic imaging results and post‐mortem findings in a foal that underwent reassessment following surgical management of angular limb deformities (ALD) and acute onset of gait abnormalities. Upon presentation, the foal showed an abnormal stiff gait characterised by bilateral medial limb collapse during
A. Torrent‐Crosa, A. Merchán‐Muñoz, C. Co, E. Borkowski   +3 more
wiley   +1 more source

Mitochondrial 8-Oxoguanine DNA Glycosylase 1-Mitochondrial Permeability Transition Pore Axis Drives Mitochondrial DNA Escape and Accelerates Osteoarthritis Progression. [PDF]

Research (Wash D C)
Huang S, Yu H, Qi W, Lin N, Chen J, Huang H, Hu P, Zhou Z, Zhang M, Ruan G, Xue S, Ding C.   +11 more
europepmc   +1 more source

Distal interphalangeal joint capsule enthesopathy of the middle phalanx and articular cartilage loss

Equine Veterinary Journal, EarlyView.
Abstract Background Significant distal interphalangeal joint (DIPJ) pathology, particularly affecting soft tissue and articular cartilage, is often not identifiable on radiographs but can be accompanied by joint capsule enthesopathy on the middle phalanx (P2), which can be readily identified.
Monika A. Samol, Myra F. Barrett, David D. Frisbie   +2 more
wiley   +1 more source