نتایج جستجو برای: linked genetic disease

تعداد نتایج: 2159503  

Journal: :avicenna journal of medical biotechnology 0

late-onset alzheimer's disease (load) is a neurodegenerative disorder and the most common form of dementia affecting people over 65 years old. alzheimer’s disease is a complex disease with multi-factorial etiology. inflammation has been approved to have an important role in the pathogenesis of alzheimer’s disease (ad). tnf-a is a main pro-inflammatory cytokine that plays an essential role in in...

Atieh Makhlough, Seyyedeh Fatemeh Emadi tarkami

  Anderson-Fabry disease is a rare inherited X-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A. Hereby we report a 39 year old male that presented with proteinuria and edema. Histopathologic, immunofluorescence and ultrastractural examination of renal tissue were in favor  of  Fabry disease in associate with IgA nephropathy. Fabry's disease associated ...

Journal: :Revista De Chimie 2022

Hypophosphorous osteomalacia (HO) is a rare metabolic disease. Due to hypophosphatemia and insufficient production of active vitamin D, the bone matrix can not be mineralized normally. Its clinical symptoms are atypical. It generally manifested in pain muscle weakness different parts. With progress disease, it very easy have osteoporosis, pathological fracture, deformity damage function other o...

2012
Masaru Takeya Fukuhiro Yamasaki Shihomi Uzuhashi Hiroyuki Sawada Toshirou Nagai Keisuke Tomioka Toyozo Sato Takayuki Aoki Makoto Kawase

Masaru Takeya, Fukuhiro Yamasaki, Shihomi Uzuhashi, Hiroyuki Sawada, Toshirou Nagai, Keisuke Tomioka, Toyozo Sato, Takayuki Aoki, Makoto Kawase Genetic Resources Conservation Research Unit, NIAS, Classification and Evaluation Research Unit, NIAS, Genetic Resources Center, NIAS A database of plant diseases in Japan was constructed and is available on the NIAS website. The database contains more...

2008
Thompson

The most cost effective and environmentally safe means by which wheat diseases can be controlled is through the use of genetic resistance in commercially grown cultivars. The identification and genetic characterisation of new sources of disease resistance and their transfer to the adapted genetic backgrounds is of great importance for breeding for disease resistance. The development of molecula...

2016
Henri J. Huttunen

In Alzheimer’s disease (AD), loss of neurons and synapses parallels the formation of neurofibrillary tangles, protein aggregates mainly composed of hyperphosphorylated and aggregated Tau protein. Tau is mostly a cytosolic protein but can also be secreted by neurons. Cell-to-cell transfer of misfolded Tau protein plays a key role in the spread of neurofibrillary pathology between brain regions i...

Journal: :Stem Cell Research 2021

Adrenoleukodystrophy (ALD) is an X-linked genetic disorder, characterized by demyelination in the central nervous system and adrenal insufficiency. Human induced pluripotent stem cell (hiPSC) lines derived from two Japanese male patients with ALD were generated skin fibroblasts using retroviral vectors. The hiPSC showed self-renewal pluripotency, carried either a missense or nonsense mutation A...

Journal: :Human reproduction update 1996
J Liu W Lissens P Devroey I Liebaers A Van Steirteghem

Cystic fibrosis (CF) is the most common genetic disease among Caucasians. Duchenne muscular dystrophy (DMD) is one of the most common X-linked genetic disorders. The CF and DMD genes were discovered a few years ago, which provided the possibility for prenatal diagnosis and preimplantation diagnosis of CF and DMD by using specific DNA analysis. In this article, CF, DMD, the process of the identi...

Journal: :Physiological genomics 2009
Marcelo A Nobrega Leah C Solberg Woods Stewart Fleming Howard J Jacob

Goto-Kakizaki (GK) rats develop early-onset type 2 diabetes (T2D) symptoms, with signs of diabetic nephropathy becoming apparent with aging. To determine whether T2D and renal disease share similar genetic architecture, we ran a quantitative trait locus (QTL) analysis in the F2 progeny of a GK x Brown Norway (BN) rat cross. Further, to determine whether genetic components change over time, we r...

Journal: :The Journal of Experimental Medicine 2000
Silvia Parolini Cristina Bottino Michela Falco Raffaella Augugliaro Silvia Giliani Roberta Franceschini Hans D. Ochs Hermann Wolf Jean-Yves Bonnefoy Roberto Biassoni Lorenzo Moretta Luigi D. Notarangelo Alessandro Moretta

2B4 is a surface molecule involved in activation of the natural killer (NK) cell-mediated cytotoxicity. It binds a protein termed Src homology 2 domain-containing protein (SH2D1A) or signaling lymphocyte activation molecule (SLAM)-associated protein (SAP), which in turn has been proposed to function as a regulator of the 2B4-associated signal transduction pathway. In this study, we analyzed pat...

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