نتایج جستجو برای: linked genetic disease

تعداد نتایج: 2159503  

2011
Vanessa M. Hubbard Ken Cadwell

The etiology of the intestinal disease Crohn's disease involves genetic factors as well as ill-defined environmental agents. Several genetic variants linked to this disease are associated with autophagy, a process that is critical for proper responses to viral infections. While a role for viruses in this disease remains speculative, accumulating evidence indicate that this possibility requires ...

Journal: :Clinical journal of the American Society of Nephrology : CJASN 2016
Judy Savige Deb Colville Michelle Rheault Susie Gear Rachel Lennon Sharon Lagas Moira Finlay Frances Flinter

Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Inheritance is X-linked (85%) or autosomal recessive (15%). Many renal physicians think of Alport syndrome as primarily affecting men. However, twice as many women are affected by the X-linked diseases. Affected women are commonly undiagnosed, but 15%-30% develop renal fai...

Journal: : 2023

Aim. To perform a molecular genetic study of CAG-repeat expansion in androgen receptor gene AR individuals with suspected spinal and bulbar muscular atrophy (Kennedy’s syndrome). Methods. Clinical genealogical, method differential diagnosis, DNA isolation purification, genetic: polymerase chain reaction, electrophoresis agarose gel. Results. A trinucleotide CAG-repeats 30 people Kennedy’s syndr...

2014
Deborah L. Galson G. David Roodman

Paget's disease of bone is characterized by highly localized areas of increased bone resorption accompanied by exuberant, but aberrant new bone formation with the primary cellular abnormality in osteoclasts. Paget's disease provides an important paradigm for understanding the molecular mechanisms regulating both osteoclast formation and osteoclast-induced osteoblast activity. Both genetic and e...

Journal: :Biomedical Journal of Scientific and Technical Research 2023

Vitamin D is a hormone produced in the skin by ultraviolet radiation and plays crucial role calcium homeostasis. It has been lately acknowledged that vitamin participates pathophysiology of various chronic diseases its deficiency linked to deterioration patients’ condition. The aim this study was record levels 25(OH)D population rural, near-border area Northern Greece investigate possible assoc...

Blast, Pyricularia grisea (Cooke) Sacc., is one of the most destructive diseases of rice worldwide and canresult in significant reductions in yield. The use of resistant cultivars is the most economical and effectiveway of controlling rice blast. A variety of DNA markers, including plant defense-related candidategene markers are available for genetic characterization and molec...

Background and purpose: Asthma is a chronic inflammatory disease of the airways that is caused by hypersensitivity to environmental allergens. Symptoms of asthma include shortness of breath, airway hyper-responsiveness, wheezing, and cough. The disease might vary from a mild to severe and intermittent to chronic disease. Asthma is known as a multifactorial disease due to the interaction of gene...

Journal: :Journal of medical genetics 1990
I Kondo H Ohta M Yazaki J E Ikeda J F Gusella I Kanazawa

Hereditary dentatorubropallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder. Clinical and genetic findings in hereditary DRPLA are very similar to those of Huntington's disease (HD). However, it can be differentiated from HD by the pathological findings of dentatorubral and pallidoluysian atrophies and by a lack of prominent atrophy of the striatum at necropsy. The...

Journal: :Journal of Kufa for Mathematics and Computer 2022

Alzheimer's disease (AD) is a major productive neurological illness with complicated genetic architecture. One of the main aims biomedical research to identify risk genes and then explain how these contribute development. As result, it required increase list linked disease. Genes play crucial role in every biological activity. Microarray technology has given access large number genes, allowing ...

Journal: :Journal of medical genetics 1995
C Wallgren-Pettersson A Clarke F Samson M Fardeau V Dubowitz H Moser T Grimm R J Barohn P G Barth

Clinical differences exist between the three forms of myotubular myopathy. They differ regarding age at onset, severity of the disease, and prognosis, and also regarding some of the clinical characteristics. The autosomal dominant form mostly has a later onset and milder course than the X linked form, and the autosomal recessive form is intermediate in both respects. These differences are, howe...

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