Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.G26R
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TTR

NM_000371.4:p.G26R

Associated Papers

Rare Forms of Cardiac Amyloidosis: Diagnostic Clues and Phenotype in Apo AI and AIV Amyloidosis.

Ioannou A et al.

Circulation. Cardiovascular Imaging, 2023

The experience of hereditary apolipoprotein A-I amyloidosis at the UK National Amyloidosis Centre.

Cohen OC et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022

Neuropathy Associated with Systemic Amyloidosis.

Kaku M et al.

Seminars in Neurology, 2019

A new genetic variant of hereditary apolipoprotein A-I amyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options.

Moutafi M et al.

Bmc Medical Genetics, 2019

High-efficient bacterial production of human ApoA-I amyloidogenic variants.

Del Giudice R et al.

Protein Science : a Publication of the Protein Society, 2018

A new prion disease: relationship with central and peripheral amyloidoses.

Mead S et al.

Nature Reviews. Neurology, 2015

Mass spectrometry analysis reveals non-mutated apolipoprotein A1 lumbosacral radiculoplexus amyloidoma.

Loavenbruck AJ et al.

Muscle & Nerve, 2012

[Familial amyloidotic polyneuropathies].

Vallat JM et al.

Bulletin De L'academie Nationale De Medecine, 2012

Amyloid diseases of the heart: current and future therapies.

Dubrey SW et al.

Qjm : Monthly Journal of the Association of Physicians, 2012

The fibrillogenic L178H variant of apolipoprotein A-I forms helical fibrils.

Petrlova J et al.

Journal of Lipid Research, 2012

Long-term data from the Familial Amyloidotic Polyneuropathy World Transplant Registry (FAPWTR).

Wilczek HE et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2011

The intracellular quality control system down-regulates the secretion of amyloidogenic apolipoprotein A-I variants: a possible impact on the natural history of the disease.

Marchesi M et al.

Biochimica Et Biophysica Acta, 2011

A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers.

Olsson M et al.

Bmc Medical Genetics, 2010

Hereditary amyloidosis with progressive peripheral neuropathy associated with apolipoprotein AI Gly26Arg: outcome of hepatorenal transplantation.

Testro AG et al.

Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2007

Ostertag revisited: the inherited systemic amyloidoses without neuropathy.

Benson MD

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2005

The hereditary amyloidoses.

Benson MD

Best Practice & Research. Clinical Rheumatology, 2003

Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.

Lachmann HJ et al.

The New England Journal of Medicine, 2002

Clinical and biochemical outcome of hepatorenal transplantation for hereditary systemic amyloidosis associated with apolipoprotein AI Gly26Arg.

Gillmore JD et al.

Transplantation, 2001

A new apolipoprotein Al variant, Trp50Arg, causes hereditary amyloidosis.

Booth DR et al.

Qjm : Monthly Journal of the Association of Physicians, 1995

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."