Results 31 to 40 of about 1,307,717 (121)
CALCIUM HOMEOSTASIS AND POLYCYSTIN-2 EXPRESSION IN T-LYMPHOBLASTS OF PKD SUBJECTS [PDF]
, 2009 Mutations of polycystin-1 (PC1) and polycystin-2 (PC2), coded by PKD1 and PKD2 genes, account for approximately 85 and 15% of Autosomal Dominant Polycystic Kidney Disease (ADPKD) cases, a common and important inherited kidney disorder.
Durante, Chiara
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The Plant Genome, Volume 19, Issue 3, September 2026.Abstract Bacterial blight and blast, caused by Xanthomonas oryzae pv. oryzae and Magnaporthe oryzae, respectively, are the two most devastating diseases of rice (Oryza sativa L.). Although the diseases were first documented in the 17th–19th centuries, systematic research on their pathology and host resistance began in the early 20th century and was ...
Van Schepler‐Luu +3 more
wiley +1 more source
Collective Wage Co‐ordination and the Costs of Job Displacement
British Journal of Industrial Relations, Volume 64, Issue 3, Page 431-449, September 2026.ABSTRACT This paper investigates whether a higher level of co‐ordination in collective wage bargaining affects the wage costs of job displacement. We use quasi‐exogenous variation in the timing of job loss due to mass layoffs spanning an institutional reform that introduced national ceilings to wage agreements negotiated at sectoral‐ and firm‐level—the
Sofía Fernández‐Guerrico +1 more
wiley +1 more source
Towards identifying the ADRP gene in a large South African family with retinitis pigmentosa [PDF]
, 2000 Bibliography: leaves 162-190.The present study was initiated with the aim of elucidating the molecular genetic basis of the RP phenotype segregating in a large SA family of British origin.
Goliath, René
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Animal Models and Experimental Medicine, Volume 9, Issue 8, Page 1548-1566, August 2026.This review summarizes the principal experimental approaches used to induce diabetes in animal models. Strategies include chemical agents (streptozotocin, alloxan, dithizone, gold thioglucose), dietary interventions (high‐fat and high‐sugar diets), surgical methods (total or partial pancreatectomy), genetic models (db/db, ob/ob, Goto‐Kakizaki [GK ...
Milad Faraji +2 more
wiley +1 more source
MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights
Movement Disorders Clinical Practice, Volume 13, Issue 8, Page 1804-1814, August 2026.Abstract Background Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP‐SPAST), ATL1 (SPG3A or HSP‐ATL1), and REEP1 (SPG31 or HSP‐REEP1).
Ce Kang +24 more
wiley +1 more source
Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies [PDF]
, 2020 © The Author(s) 2020.Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a type of leukodystrophy characterized by white matter edema, and it is caused mainly by recessive mutations in MLC1 and GLIALCAM genes.
Alonso Gardón, Marta +16 more
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Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem +2 more
wiley +1 more source
Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations [PDF]
, 2010 Stargardt disease (STGD), a juvenile-onset form of macular dystrophy resulting in a severe reduction of central vision, may be inherited in either an autosomal recessive or autosomal dominant manner.
Nossek, C
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Urinary proteomic biomarkers for diagnosis and risk stratification of autosomal dominant polycystic kidney disease: a multicentric study [PDF]
, 2013 Treatment options for autosomal dominant polycystic kidney disease (ADPKD) will likely become available in the near future, hence reliable diagnostic and prognostic biomarkers for the disease are strongly needed.
Torres, Vicente E. +101 more
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