Publications by authors named "Constantin Polychronakos"

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Non-syndromic WFS1 mutations are not a rare cause of diabetes in Pakistan.
Ibrar Rafique, Asif Mir, Natalija Popovic, Alix Vanpoperinghe, Muhammad Arif Nadeem Saqib, Constantin Polychronakos

Diabetes Res Clin Pract· September 2025

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Metabolome-wide Mendelian randomisation reveals causal links between circulating metabolites and type 1 diabetes.
Basile Jumentier, Isabel Gamache, Dominika A Michalek, Wei-Min Chen, Suna Onengut-Gumuscu, Constantin Polychronakos

EBioMedicine· July 2025

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Investigating gene variants in consanguineous families: novel insights into variable expression in familial congenital hypothyroidism.
Zakiye Nadeali, Zohreh Mohammadi-Zaniani, Sajjad Biglari, Newsha Molavi, Khashayar Zardoui, Constantin Polychronakos

Front Endocrinol (Lausanne)· May 2025

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Population-based prevalence of self-reported pediatric diabetes and screening for undiagnosed type 2 diabetes in Chinese children in years 2017-2019, a cross-sectional study.
Wei Wu, Jian-Wei Zhang, Yangxi Li, Ke Huang, Rui-Min Chen, Constantin Polychronakos

Lancet Reg Health West Pac· November 2024

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Parsing the spectrum of allelic architectures in diabetes.
Yangxi Li, Constantin Polychronakos

Nat Genet· November 2024

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Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity.
Meihang Li, Natalija Popovic, Ying Wang, Chunbo Chen, Constantin Polychronakos

Rev Endocr Metab Disord· August 2023

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Genome-wide association study of the age of onset of type 1 diabetes reveals HTATIP2 as a novel T cell regulator.
Christopher J Cardinale, Xiao Chang, Zhi Wei, Hui-Qi Qu, Jonathan P Bradfield, Constantin Polychronakos

Front Immunol· March 2023

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Clinical application of immune repertoire sequencing in solid organ transplant.
Paaksum Wong, Davide P Cina, Karen R Sherwood, Franz Fenninger, Ruth Sapir-Pichhadze, Constantin Polychronakos

Front Immunol· March 2023

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A Novel Somatic Mutation Implicates ATP6V0D1 in Proinsulin Processing.
Parizad Avari, Pei Chia Eng, Ming Hu, Runzhi Chen, Natalija Popovic, Constantin Polychronakos

J Endocr Soc· January 2023

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Development of simple and effective PCR based assay to detect mutation (c.425G > A) among Saudi carriers and functional study of the homozygous mutations.
Ali Al-Asmari, Abdul Ali Peer-Zada, Abdulwahed AlDehaimi, Constantin Polychronakos, Aziz A Chentoufi

Saudi J Biol Sci· December 2022

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Dissecting the impact of molecular T-cell HLA mismatches in kidney transplant failure: A retrospective cohort study.
William Lemieux, David Fleischer, Archer Yi Yang, Matthias Niemann, Karim Oualkacha, Constantin Polychronakos

Front Immunol· December 2022

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Why all MODY variants are dominantly inherited: a hypothesis.
Meihang Li, Jean-Baptiste Rivière, Constantin Polychronakos

Trends Genet· April 2022

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The insulin hypersecretion hypothesis: cause or effect?
Constantin Polychronakos

Diabetologia· March 2022

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Clinically Relevant Circulating Protein Biomarkers for Type 1 Diabetes: Evidence From a Two-Sample Mendelian Randomization Study.
Nahid Yazdanpanah, Mojgan Yazdanpanah, Ye Wang, Vincenzo Forgetta, Michael Pollak, Constantin Polychronakos

Diabetes Care· January 2022

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Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations.
Mingqiang Zhu, Yangxi Li, Guanping Dong, Xuefeng Chen, Ke Huang, Constantin Polychronakos

Eur J Endocrinol· December 2021

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Causal variants in Maturity Onset Diabetes of the Young (MODY) - A systematic review.
Ibrar Rafique, Asif Mir, Muhammad Arif Nadeem Saqib, Muhammad Naeem, Luc Marchand, Constantin Polychronakos

BMC Endocr Disord· November 2021

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Comprehensive genetic screening reveals wide spectrum of genetic variants in monogenic forms of diabetes among Pakistani population.
Ibrar Rafique, Asif Mir, Shajee Siddiqui, Muhammad Arif Nadeem Saqib, Asher Fawwad, Constantin Polychronakos

World J Diabetes· November 2021

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Somatic Mutations and Autoimmunity.
Maha Alriyami, Constantin Polychronakos

Cells· August 2021

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Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci.
Hui-Qi Qu, Jingchun Qu, Jonathan Bradfield, Luc Marchand, Joseph Glessner, Constantin Polychronakos

Commun Biol· July 2021

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Monogenic Causes in the Type 1 Diabetes Genetics Consortium Cohort: Low Genetic Risk for Autoimmunity in Case Selection.
Luc Marchand, Meihang Li, Coralie Leblicq, Ibrar Rafique, Tugba Alarcon-Martinez, Constantin Polychronakos

J Clin Endocrinol Metab· May 2021

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Correction: Vitamin D levels and risk of type 1 diabetes: A Mendelian randomization study.
Despoina Manousaki, Adil Harroud, Ruth E Mitchell, Stephanie Ross, Vince Forgetta, Constantin Polychronakos

PLoS Med· April 2021

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Arg>Trp Polymorphism Improves Macrophage-Mediated Adipocyte Homeostasis.
Mei Hang Li, Chao Sun, Yuan Chao Sun, Yu Juan Niu, Chuan Hong Wu, Constantin Polychronakos

Biomed Environ Sci· March 2021

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Vitamin D levels and risk of type 1 diabetes: A Mendelian randomization study.
Despoina Manousaki, Adil Harroud, Ruth E Mitchell, Stephanie Ross, Vince Forgetta, Constantin Polychronakos

PLoS Med· February 2021

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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, Constantin Polychronakos

J Clin Endocrinol Metab· January 2021

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tRNA methyltransferase 10 homologue A () mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly.
Hu Lin, Xuelian Zhou, Xuefeng Chen, Ke Huang, Wei Wu, Constantin Polychronakos

BMJ Open Diabetes Res Care· October 2020

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