Varaico: Literature-Extracted Genetic Variants

Gene:ADH5
Variant:p.R218P
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ADH5

NM_000671.4:p.R218P

Associated Papers

Letter to the Editor: False Hypercortisolemia Due to Abnormal Albumin-Cortisol Binding in a Patient with Familial Dysalbuminemic Hyperthyroxinemia.

Chiba K et al.

Thyroid : Official Journal of the American Thyroid Association, 2022

Familial Dysalbuminemic Hyperthyroxinemia (FDH), Albumin Gene Variant (R218S), and Risk of Miscarriages in Offspring.

Lai S et al.

The American Journal of the Medical Sciences, 2020

Hyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia.

Moran C et al.

Thyroid : Official Journal of the American Thyroid Association, 2020

Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations.

Mimoto MS et al.

Journal of Endocrinological Investigation, 2020

SEVEN FAMILIAL DYSALBUMINEMIC HYPERTHYROXINEMIA CASES IN THREE UNRELATED JAPANESE FAMILIES AND HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY ANALYSIS OF THE THYROXINE BINDING PROFILE.

Nagano H et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2017

Familial Dysalbuminemic Hyperthyroxinemia that was Inappropriately Treated with Thiamazole Due to Pseudo-thyrotoxic Symptoms.

Fukaishi T et al.

Internal Medicine (tokyo, Japan), 2017

A case of familial dysalbuminemic hyperthyroxinemia (FDH) in Japan: FDH as a possible differential diagnosis of syndrome of inappropriate secretion of thyroid-stimulating hormone (SITSH).

Kobayashi S et al.

Endocrine Journal, 2017

Clinical, Genetic, and Protein Structural Aspects of Familial Dysalbuminemic Hyperthyroxinemia and Hypertriiodothyroninemia.

Kragh-Hansen U et al.

Frontiers in Endocrinology, 2017

Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Man Caused by a Point Albumin Gene Mutation (R218P).

Osaki Y et al.

Japanese Clinical Medicine, 2016

Inherited defects of thyroxine-binding proteins.

Pappa T et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2015

Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading.

Choudhary A et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015

A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia.

Schoenmakers N et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction.

Greenberg SM et al.

Thyroid : Official Journal of the American Thyroid Association, 2014

Artifactually elevated serum-free thyroxine levels measured by equilibrium dialysis in a pregnant woman with familial dysalbuminemic hyperthyroxinemia.

Hoshikawa S et al.

Thyroid : Official Journal of the American Thyroid Association, 2004

Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia.

Petitpas I et al.

Proceedings of the National Academy of Sciences of the United States of America, 2003

Familial dysalbuminemic hyperthyroxinemia: a rare example of albumin polymorphism and its rapid molecular diagnosis.

AvRuskin TW et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2002

Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine.

Pannain S et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

Familial dysalbuminemic byperthyroxinemia may result in altered warfarin pharmacokinetics.

Petersen CE et al.

Chemico-biological Interactions, 2000

Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect.

Sunthornthepvarakul T et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

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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."