Results 41 to 50 of about 7,729 (170)

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Variables associated with endogenous hyperinsulinism in hypoglycemia diagnosis. Could the 72-hour fasting test be shortened in low-risk patients?

Journal of Clinical & Translational Endocrinology
Background: The 72-hour fasting test remains the standard for the diagnosis of endogenous hyperinsulinism. We investigated which variables could identify patients at low risk for endogenous hyperinsulinism, in whom a shortening of the 72-hour fasting ...
Tomás González-Vidal, Óscar Lado-Baleato, Inés Masid, Carmen Gándara-Gutiérrez, Gema Martínez-Tamés, Jessica Ares, Carmen Lambert, María Riestra-Fernández, Francisco Gude, Elías Delgado, Edelmiro Menéndez-Torre   +10 more
doaj   +1 more source

Cardiovascular Health in Women—Across the Lifespan

Clinical Endocrinology, Volume 104, Issue 6, Page 539-555, June 2026.
ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar, Jessica Yao, Simone Gong, Madhuka Wijayarathne, Monique Watts, Swati Mukherjee   +5 more
wiley   +1 more source

Exercise-induced hyperinsulinism: genetic basis and clinical management

中国当代儿科杂志
Exercise-induced hyperinsulinism, also known as monocarboxylate transporter 1 hyperinsulinemia, is a rare subtype of congenital hyperinsulinism caused by gain-of-function variants in the SLC16A1 gene, which encodes monocarboxylate transporter 1.
ZHANG Qi-Ting, HOU Ling
doaj   +1 more source

Genotype–Phenotype Spectrum of Non‐Syndromic Monogenic Obesity in a National Paediatric Cohort

Pediatric Obesity, Volume 21, Issue 6, June 2026.
ABSTRACT Objective Non‐syndromic monogenic obesity, caused by defects in the leptin‐melanocortin pathway, presents with early‐onset severe obesity and hyperphagia, but genotype–phenotype and metabolic correlations across different genetic forms remain unclear.
Ahmet Kahveci, Selin Uzun Karauzum, Hayrullah Manyas, Behiye Sarikaya Ozdemir, Zerrin Orbak, Ummahan Tercan, Ruken Yildirim, Nihal Hatipoglu, Fatih Kilci, Hatice Nursoy, Servan Ozalkak, Baris Kolbasi, Semra Cetinkaya, Hazal Canbaz Ozdemir, Mesut Parlak, Filiz Tutunculer Kokenli, Emine Camtosun, Saime Ergen Dibeklioglu, Gonul Buyukyilmaz, Ayse Derya Bulus, Hanife Gul Balki, Ayse Ozden, E. Nazli Gonc, Elif Ozsu, Huseyin Demirbilek, Melek Yildiz, Samim Ozen, Abdullah Bereket, Belma Haliloglu   +28 more
wiley   +1 more source

GGAs: Regulation of Multiple Sorting Pathways and Potential Association With Human Diseases

Journal of Cellular and Molecular Medicine, Volume 30, Issue 11, June 2026.
ABSTRACT Golgi‐localized gamma‐ear‐containing Arf‐binding proteins (GGAs) are a family of monomeric clathrin adaptors that function in intracellular vesicle trafficking. The three GGA family members—GGA1, GGA2 and GGA3—were first identified as sorting adaptors almost simultaneously by independent research groups in 2000. It is now well established that
Qinqin Wang, Juan Mei, Shuyue Li, Guoan Zhang, Jian Qiu, Xuezhi Li   +5 more
wiley   +1 more source

How Pre‐Pregnancy Weight and Polycystic Ovary Syndrome Impact Pregnancy Outcomes: A Population‐Based Cohort Study

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background and Aims Pre‐pregnancy overweight/obese status among women with polycystic ovary syndrome (PCOS) could increase the risk of at least one adverse pregnancy outcome (APO). This study aimed to determine how pre‐pregnancy weight and PCOS impact pregnancy outcomes. Methods For the current study, we used data collected in the Tehran Lipid
Elahe Sheklabadi, Marzieh Saei Ghare Naz, Maryam Mousavi, Maryam Rahmati, Seyed Alireza Ebadi, Fereidoun Azizi, Fahimeh Ramezani Tehrani   +6 more
wiley   +1 more source

Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network

Frontiers in Endocrinology
IntroductionCongenital Hyperinsulinism (HI) is a rare disease that causes severe and recurrent hypoglycemia due to dysregulated insulin secretion. HI is the most frequent cause of severe, persistent hypoglycemia in newborns and children.
Tai L. S. Pasquini, Indraneel Banerjee, Henrik Thybo Christesen, Louise S. Conwell, Antonia Dastamani, Diva D. De Leon, Sarah E. Flanagan, David Gillis, Jennifer M. Kalish, Katherine Lord, Mahlet Mesfin, Jennifer Schmitt, Senthil Senniappan, Charles A. Stanley, Paul S. Thornton, David Zangen, Julie Raskin, the Congenital Hyperinsulinism Collaborative Research Network Members   +17 more
doaj   +1 more source

Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity

Genome Medicine
Background We recently reported non-coding variants in a cis-regulatory element of the beta-cell disallowed gene hexokinase 1 (HK1) as a novel cause of congenital hyperinsulinism.
Jasmin J. Bennett, Cécile Saint-Martin, Bianca Neumann, Jonna M. E. Männistö, Jayne A. L. Houghton, Susann Empting, Matthew B. Johnson, Thomas W. Laver, Jonathan M. Locke, Benjamin Spurrier, Matthew N. Wakeling, Indraneel Banerjee, Antonia Dastamani, Hüseyin Demirbilek, John Mitchell, Markus Stange, International Congenital Hyperinsulinism Consortium, Klaus Mohnike, Jean-Baptiste Arnoux, Nick D. L. Owens, Martin Zenker, Christine Bellanné-Chantelot, Sarah E. Flanagan   +22 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source