Results 121 to 130 of about 39,956 (278)

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, EarlyView.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

FIBROUS DYSPLASIA OF BONE WITH SKELETAL LIPOID GRANULOMATOSIS

, 1954
1. A case of fibrous dysplasia in a woman aged fifty, with unilateral skeletal lesions, cutaneous pigmentation and possibly accelerated skeletal growth, is described. 2.
D. G. F. Harriman, J. H. D. Millar
core   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

Soluble Epoxide Hydrolase Inhibition Regulates Septoclast Activity to Promote Long Bone Growth and Fracture Healing by Enhancing Endothelial‐to‐Mesenchymal Notch Signalling

Cell Proliferation, EarlyView.
The sEH inhibitor TPPU upregulates endothelial HIF‐1α, activating the NOTCH signalling pathway between endothelial cells and mesenchymal stem cells. This promotes the differentiation and formation of FABP5+ septoclasts, enhances their participation in endochondral ossification, and ultimately improves longitudinal bone growth and fracture healing ...
Weixian Chen, Liangliang Liu, Xumeng Wang, Juanjuan Li, Jingyi Zhang, Xiaoli Shi, Qing Sun, Xu Chang, Jing Zhang, Jie Zhao, Fu Wang   +10 more
wiley   +1 more source

A Novel 4.2 kb deletion of the 3′UTR of RUNX2 Gene Causes Cleidocranial Dysplasia: Further Delineation of the Role of yhe 3′UTR

Balkan Journal of Medical Genetics
Cleidocranial dysplasia is a rare autosomal dominant skeletal dysplasia. We present the first case in the literature involving a deletion of the 3′UTR of RUNX2 gene associated with a cleidocranial dysplasia spectrum disorder, along with the diagnostic ...
Mijovic M, Cuturilo G, Ruml Stojanovic J, Brankovic M, Miletic A, Bosankic B, Dedovic M, Perovic D, Maksimovic N, Damnjanovic T   +9 more
doaj   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Thanatophoric Dysplasia – Rare Fatal Skeletal Dysplasia Detected on Prenatal Ultrasound

Skeletal dysplasias form an assorted cluster of bone dysplasias that result in atypical and aberrant skeletal size and shape. The case discussed here was diagnosed as thanatophoric dysplasia during the second-trimester ultrasound examination and the ...
Rajesh Kumar Mishra, Ranjit Singh Lahel, Sangeet Kumar   +2 more
core   +1 more source

Neuroimmune alterations and nociceptive behavior in oral carcinogenesis in rats

European Journal of Oral Sciences, EarlyView.
Abstract Oral cancer pain is a frequent and debilitating symptom associated with tumor progression. Although neuronal mechanisms have been extensively studied, the role of immune and glial cells in the trigeminal nociceptive pathway remains poorly understood.
Joana Maria dos Santos Alves, Luiza Clertiani Vieira Alves, Vitória Tavares Bessa, Anamaria Falcão Pereira, Roberto César Pereira Lima Júnior, Mariana Lima Vale, Karuza Maria Alves Pereira, Delane Viana Gondim   +7 more
wiley   +1 more source

Schimke immunoosseous dysplasia: defining skeletal features

, 2010
Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis.
Guiliana, Fryssira, Helen, Alpay, Harika, Rusu, Cristina, Hunter, Kshamta B., Stajic, Natasa, Saraiva, Sigaudy, Sabine, Luecke, Thomas, Taha, Doris, Spranger, Juergen, Lama, Asakura, Cairns, Robyn, Fruend, Stefan, Loirat, Chantal, Mayfield, Christy, Smithson, Sarah F., Lamfers, Petra, Goodman, David, Cransberg, Karlien, Bogdanovic, Radovan, Majore, Silvia, Shoemaker, Lawrence, Bonneau, Dominique, Helmke, Knut, Yumi, Hinkelmann, Barbara, Schmidt, Beate, Boerkoel, Cornelius F., Andre, Jean-Luc, Jorge M., Pontz, Bertram F.   +32 more
core  

Ocular Manifestations of Infectious Salmon Anaemia Virus Infection in Atlantic Salmon (Salmo salar)

Journal of Fish Diseases, EarlyView.
ABSTRACT Eyes are essential sensory organs needed by teleost Atlantic salmon for high visual acuity and survival in both the wild and in aquaculture settings. In this work, we assessed the ocular manifestations of Infectious Salmon Anaemia Virus (ISAV) infection in Atlantic salmon by a cohabitation‐mediated infection assay and histological and ...
Emily Mahon, Rebecca R. Kwabiah, Hélène Paradis, Manuel A. Soto‐Dávila, Sathees Duglas, Raja Ram Gurung, Thurka Paramanathan, Ignacio Vasquez, Shams Al‐Badoosh, John Law, Javier Santander, Mark D. Fast, Robert L. Gendron   +12 more
wiley   +1 more source