ArticleMolecular neurobiology2018
A Missense Variant p.Ala117Ser in the Transthyretin Gene of a Han Chinese Family with Familial Amyloid Polyneuropathy.
Article in Molecular neurobiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China.Orphanet journal of rare diseases · 2022Pooled it
- Characterization of Transthyretin Mutation G47V Associated with Hereditary Cardiac Amyloidosis.Cardiology · 2024Article
- Identification of a novel transthyretin mutation D39Y in a cardiac amyloidosis patient and its biochemical characterizations.Frontiers in cardiovascular medicine · 2023Article
- Ala97Ser transthyretin amyloidosis-associated polyneuropathy, clinical and neurophysiological profiles in a Thai cohort.BMC neurology · 2021Article
- Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study.Annals of clinical and translational neurology · 2021Article
- Identification of aExperimental and therapeutic medicine · 2020Article
- Extended Study ofFrontiers in neurology · 2020Article
- Novel Compound HeterozygousParkinson's disease · 2019Article
- The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis.Journal of neurology · 2019Article
- Fluorotryptophan Incorporation Modulates the Structure and Stability of Transthyretin in a Site-Specific Manner.Biochemistry · 2017Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Familial amyloid polyneuropathy (FAP) is a dominantly inherited disorder. This study aims to explore the genetic features of a Han Chinese family with FAP, characterized by bloating, alternating diarrhea and constipation, and weakness in his feet. Amyloid presented histologically in the vessel walls of hepatic portal area and nerves of the surgically excised liver specimens from the proband by hematoxylin and eosin staining. Amyloid deposition was further confirmed with Congo red treatment. A c.349G>T transversion (p.Ala117Ser) in TTR gene exon 4 was identified in the proband with typical autonomic neuropathy and peripheral motor neuropathy, as well as in his asymptomatic son. The variant was not detected in 200 normal ethnically matched controls. These findings provide new insights into FAP cause and diagnosis and have implications for genetic counseling.
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