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Akademický článek

Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1

Autor: Sommayya Aftab, Diliara Gubaeva, Jayne A L Houghton, Antonia Dastamani, Ellada Sotiridou, Clare Gilbert, Sarah E Flanagan, Anatoly Tiulpakov, Maria Melikyan, Pratik Shah

Publikováno v: Endocrine Connections, Vol 12, Iss 4, Pp 1-7 (2023)

Background: Hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common type of congenital hyperinsulinism caused by an activating GLUD1 mutation. Objective: The aim of this study was to determine the clinical profile and long-term neur

Externí odkaz: https://doaj.org/article/880f7ca7eaf7476fabee9019cd87379d

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Akademický článek

Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children’s Hospital

Autor: Can Thi Bich Ngoc, Tran Minh Dien, Elisa De Franco, Sian Ellard, Jayne A. L. Houghton, Nguyen Ngoc Lan, Bui Phuong Thao, Nguyen Ngoc Khanh, Sarah E. Flanagan, Maria E. Craig, Vu Chi Dung

Publikováno v: Frontiers in Endocrinology, Vol 12 (2021)

BackgroundNeonatal diabetes mellitus (NDM) is defined as insulin-requiring persistent hyperglycemia occurring within the first 6 months of life, which can result from mutations in at least 25 different genes. Activating heterozygous mutations in gene

Externí odkaz: https://doaj.org/article/d9268d9f86894748b473686803115941

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Akademický článek

Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome

Autor: Vera Splittstoesser, Heike Vollbach, Michaela Plamper, Werner Garbe, Elisa De Franco, Jayne A. L. Houghton, Gesche Dueker, Rainer Ganschow, Bettina Gohlke, Felix Schreiner

Publikováno v: Frontiers in Endocrinology, Vol 12 (2021)

BackgroundNeonatal diabetes with congenital hypothyroidism (NDH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLI-similar 3 coding gene GLIS3. Almost 20 patients have been reported to date, with signific

Externí odkaz: https://doaj.org/article/2c4c6cfa982f459988f2117f3d8b8ff1

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Akademický článek

Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389.

Autor: Daphne Yau, Thomas W Laver, Antonia Dastamani, Senthil Senniappan, Jayne A L Houghton, Guftar Shaikh, Tim Cheetham, Talat Mushtaq, Ritika R Kapoor, Tabitha Randell, Sian Ellard, Pratik Shah, Indraneel Banerjee, Sarah E Flanagan

Publikováno v: PLoS ONE, Vol 15, Iss 2, p e0228417 (2020)

Congenital hyperinsulinism (CHI) is a significant cause of hypoglycaemia in neonates and infants with the potential for permanent neurologic injury. Accurate calculations of the incidence of rare diseases such as CHI are important as they inform heal

Externí odkaz: https://doaj.org/article/bcf7bd9b0a414b47a5a19639403cea32

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Akademický článek

Leveraging PET to image folate receptor α therapy of an antibody-drug conjugate

Autor: Christian Brand, Ahmad Sadique, Jacob L. Houghton, Kishore Gangangari, Jose F. Ponte, Jason S. Lewis, Naga Vara Kishore Pillarsetty, Jason A. Konner, Thomas Reiner

Publikováno v: EJNMMI Research, Vol 8, Iss 1, Pp 1-10 (2018)

Abstract Background The folate receptor α (FRα)-targeting antibody-drug conjugate (ADC), IMGN853, shows great antitumor activity against FRα-expressing tumors in vivo, but patient selection and consequently therapy outcome are based on immunohisto

Externí odkaz: https://doaj.org/article/48194ca7f8f946429f00bb484510caba

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Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic

Autor: Jasmin J Hopkins, Alexandra J Childs, Jayne A L Houghton, Thomas I Hewat, Navoda Atapattu, Matthew B Johnson, Kashyap A Patel, Thomas W Laver, Sarah E Flanagan

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 108:680-687

ContextCongenital hyperinsulinism (HI) is characterized by inappropriate insulin secretion despite low blood glucose. Persistent HI is often monogenic, with the majority of cases diagnosed in infancy. Less is known about the contribution of monogenic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87685fc2a196cbb1e4e276824884e5a7
https://doi.org/10.1210/clinem/dgac604

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Supporting Information from Establishment of the In Vivo Efficacy of Pretargeted Radioimmunotherapy Utilizing Inverse Electron Demand Diels-Alder Click Chemistry

Autor: Brian M. Zeglis, Jason S. Lewis, Pat B. Zanzonico, Wolfgang W. Scholz, Sean Carlin, Kristen M. Cunanan, Dalya Abdel-Atti, Rosemery Membreno, Jacob L. Houghton

This document contains all supporting materials and methods as well as supplemental figures and tables.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b48d12bb04fcc036f3c5083d0127ce7
https://doi.org/10.1158/1535-7163.22508922

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Akademický článek

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