Publications by authors named "James Acierno"

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Multiomics unravels the complexity of male obesity: a prospective observational study.
Georgios E Papadakis, Lucie Favre, Yassine Zouaghi, Nathalie Vionnet, Nicolas J Niederländer, James S Acierno

J Transl Med· January 2025

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Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.
Yassine Zouaghi, Anbreen Mazhar Choudhary, Saba Irshad, Michela Adamo, Khaleeq Ur Rehman, James Acierno

BMC Genomics· August 2024

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mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice.
Konstantina Chachlaki, Andrea Messina, Virginia Delli, Valerie Leysen, Csilla Maurnyi, James Acierno

Sci Transl Med· October 2022

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GnRH replacement rescues cognition in Down syndrome.
Maria Manfredi-Lozano, Valerie Leysen, Michela Adamo, Isabel Paiva, Renaud Rovera, James Acierno

Science· September 2022

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Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.
Sara Barraud, Brigitte Delemer, Céline Poirsier-Violle, Jérôme Bouligand, Jean-Claude Mérol, James S Acierno

Neuroendocrinology· October 2021

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Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
James S Acierno, Cheng Xu, Georgios E Papadakis, Nicolas J Niederländer, Jesse D Rademaker

Genet Med· November 2020

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Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
Andrea Messina, Kristiina Pulli, Sara Santini, James Acierno, Johanna Känsäkoski

Am J Hum Genet· January 2020

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Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism.
Samuel Andrew Malone, Georgios E Papadakis, Andrea Messina, Nour El Houda Mimouni, Sara Trova, James Acierno

Elife· July 2019

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Clinical Management of Congenital Hypogonadotropic Hypogonadism.
Jacques Young, Cheng Xu, Georgios E Papadakis, James S Acierno, Luigi Maione

Endocr Rev· April 2019

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A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay.
Maria-Christina Antoniou, Thérèse Bouthors, Cheng Xu, Franziska Phan-Hug, Eglantine Elowe-Gruau, James Acierno

Ann Pediatr Endocrinol Metab· March 2019

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The Reduction of Visceral Adipose Tissue after Roux-en-Y Gastric Bypass Is more Pronounced in Patients with Impaired Glucose Metabolism.
Lucie Favre, Laura Marino, Aline Roth, James Acierno, Didier Hans

Obes Surg· December 2018

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Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development.
Zofia Kolesinska, James Acierno, S Faisal Ahmed, Cheng Xu, Karina Kapczuk

Endocr Connect· December 2018

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Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.
Cheng Xu, Daniele Cassatella, Almer M van der Sloot, Richard Quinton, Michael Hauschild, James Acierno

Genet Med· August 2018

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Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
Daniele Cassatella, Sasha R Howard, James S Acierno, Cheng Xu, Georgios E Papadakis

Eur J Endocrinol· April 2018

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DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.
Justine Bouilly, Andrea Messina, Georgios Papadakis, Daniele Cassatella, Cheng Xu, James S Acierno

Hum Mol Genet· January 2018

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, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
Cheng Xu, Andrea Messina, Emmanuel Somm, Hichem Miraoui, Tarja Kinnunen, James Acierno

EMBO Mol Med· October 2017

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β-Klotho deficiency protects against obesity through a crosstalk between liver, microbiota, and brown adipose tissue.
Emmanuel Somm, Hugues Henry, Stephen J Bruce, Sébastien Aeby, Marta Rosikiewicz, James S Acierno

JCI Insight· April 2017

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Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
Nelly Pitteloud, Richard Quinton, Simon Pearce, Taneli Raivio, James Acierno

J Clin Invest· February 2007

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Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
Nelly Pitteloud, Astrid Meysing, Richard Quinton, James S Acierno, Andrew A Dwyer

Mol Cell Endocrinol· July 2006

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Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
Nelly Pitteloud, James S Acierno, Astrid Meysing, Anna V Eliseenkova, Jinghong Ma

Proc Natl Acad Sci U S A· April 2006

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Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.
Wen-Qi Zeng, Eiman Al-Yamani, James S Acierno, Susan Slaugenhaupt, Tammy Gillis

Am J Hum Genet· July 2005

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Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.
Nelly Pitteloud, James S Acierno, Astrid U Meysing, Andrew A Dwyer, Frances J Hayes

J Clin Endocrinol Metab· March 2005

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Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).
Kiyonori Miura, James S Acierno, Stephanie B Seminara

J Hum Genet· October 2004

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GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone.
Astrid U Meysing, Haruhiko Kanasaki, Gregoy Y Bedecarrats, James S Acierno, P Michael Conn

J Clin Endocrinol Metab· July 2004

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The GPR54 gene as a regulator of puberty.
Stephanie B Seminara, Sophie Messager, Emmanouella E Chatzidaki, Rosemary R Thresher, James S Acierno

N Engl J Med· October 2003

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