Results 61 to 70 of about 1,130,327 (225)

Novel variant and enteroendocrine hormone deficiency in a patient with proline and glutamate‐rich protein with a coiled coil domain 1 (PERCC1) associated enteropathy: New diagnostic and therapeutic insights

JPGN Reports, EarlyView.
Abstract Proline and glutamate‐rich protein with a coiled coil domain 1 (PERCC1)‐associated enteropathy is a rare monogenic congenital diarrhea due to defective enteroendocrine cells (EECs). We describe a 6‐year‐old female with intestinal failure since birth.
Teresa Di Chio, Daniela Gattini, Christina Belza, Iram Siddiqui, Bolette Hartmann, Meghan Zoe Benchimol, Shiqi Zhang, Neil E. Warner, Aleixo M. Muise, Yaron Avitzur   +9 more
wiley   +1 more source

Clinical Implications of Urinary C-Peptide Creatinine Ratio in Patients with Different Types of Diabetes

Journal of Diabetes Research, 2019
Introduction. Urinary C-peptide creatinine ratio (UCPCR) is used as a marker of endogenous insulin secretion. This study aims to assess the effectiveness of UCPCR for distinguishing between type 1 diabetes (T1DM) and non-T1DM (monogenic diabetes and T2DM)
Yanai Wang, Ying Gao, Xiaoling Cai, Ling Chen, Lingli Zhou, Yumin Ma, Siqian Gong, Xueyao Han, Linong Ji   +8 more
doaj   +1 more source

Maternally inherited diabetes and deafness (MIDD): An uncommon but important cause of diabetes

Endocrine and Metabolic Science, 2021
It is estimated that between 0.5% to 2.8% of patients with diabetes have maternally inherited diabetes and deafness (MIDD), which is caused by a mutation at position 3243 of the mitochondrial DNA.
Aleena Shujaat Ali, Elif Ilhan Ekinci, Felicity Pyrlis   +2 more
doaj   +1 more source

SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago

Movement Disorders, EarlyView.
Abstract Background SLC7A6OS c.191A>G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A>G variant, first discovered in two families from Türkiye and Portugal, was recently identified in three additional probands from the USA, all of Puerto Rican ancestry.
Bronwyn E. Grinton, Colin A. Ellis, Mered Parnes, Laina Lusk Stripe, Jacob E. Munro, Laure Mazzola, Pamela P. McDonnell, Betül Baykan, Volkan Taşdemir, Mariam Hull, Krystal Sully, Sara Cabet, Anna‐Elina Lehesjoki, Nerses Bebek, Melanie Bahlo, Samuel F. Berkovic, Gaetan Lesca, Karen L. Oliver   +17 more
wiley   +1 more source

Monogenic forms of diabetes resulting from β‎ cell dysfunction

, 2011
Monogenic diabetes refers to diabetes resulting from mutations in a single gene. This chapter discusses monogenic disorders causing β‎ cell dysfunction, which accounts for the majority of cases of monogenic diabetes.
Andrew Hattersley, Rachel Besser
core   +1 more source

Functional Characterization of CYP26B1 Short Isoform as a Novel Locus for Obesity in Indigenous Americans From Arizona

Obesity, EarlyView.
ABSTRACT Objective To identify heritable factors that affect BMI among Indigenous Americans, we previously conducted a genome‐wide association study using 7.9 million imputed genetic variants from 6789 participants. This study sought to identify a mechanistic link between variants with the strongest association with BMI and adipocyte metabolism ...
Fehmida Farid Khan, Michael Traurig, Kendrick Freeland, Robert L. Hanson, Paolo Piaggi, Leslie J. Baier   +5 more
wiley   +1 more source

Genome Editing and Human Pluripotent Stem Cell Technologies for in vitro Monogenic Diabetes Modeling

Diabetes, Metabolic Syndrome and Obesity, 2022
Yosef Tsegaye Dabi,1,2 Sisay Teka Degechisa1,3 1Department of Medical Biochemistry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia; 2Department of Medical Laboratory Science, Wollega University, Nekemte ...
Dabi YT, Degechisa ST
doaj  

From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the overall diagnostic yield of sequential chromosomal microarray (CMA) and exome sequencing (ES) across the phenotypic spectrum of fetal growth restriction (FGR). Methods A retrospective cohort of 320 consecutive FGR pregnancies presenting at ≥ 20 weeks to a tertiary fetal medicine unit (2020–2025).
Hadas Miremberg, May Shabat, Maya Stok, Vered Offer Glasner, Adi Botvinik, Mordechai Shohat, Michal Levy, Yuval Yaron, Roee Birnbaum, Sharon Perlman, Gustavo Malinger, Karina Krajden Haratz   +11 more
wiley   +1 more source

Type 1 Diabetes Genetic Risk Contributes to Phenotypic Presentation in Monogenic Autoimmune Diabetes

There is variability in early-onset autoimmune diabetes presentation in individuals with monogenic autoimmunity; the mechanism(s) underlying this is unclear.
Oram, Richard A., Roep, Bart O., Weedon, Michael N., Hawkes, Gareth, Hagopian, William A., Hawkes, G., De Franco, E., Weedon, M. N., De Franco, Elisa, Green, Harry D., Luckett, Amber M., Luckett, A. M., Johnson, Matthew B., EXE-T1D consortium, Oram, R. A., Roep, B. O., Johnson, M. B., Hagopian, W. A., Green, H. D.   +18 more
core   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source