Results 71 to 80 of about 6,119 (148)

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

Prenatal Diagnosis, Volume 46, Issue 11, Page 1703-1710, October 2026.
ABSTRACT Objective Expert prenatal focused gene‐disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing. Methods An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe ...
Stephanie N. Galloway, Jessica L. Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Prenatal GCEP Panel members, Ronald J. Wapner, Wendy Chung, Ignatia B. Van den Veyver, Shagun Aggarwal, Caitlin Baptiste, Brenna Boyd, Amanda Buchanan, Alicia Byrne, Imen Chakchouk, David Chitayat, Lyn Chitty, Pinal Dalwadi, Avinash Dharmadhikari, Lilian Downie, Stephanie Dukhovny, Mythily Ganapathi, Kelly Gilmore, Elena Greenfeld, Lylach Haizler‐Cohen, Vaidehi Jobanputra, Gabrielle Litteken, Hannah Perrin, Julie Ratliff, Rebecca Reimers, Erin Riggs, Teresa Sparks, Samantha Stover, Amanda Thomas‐Wilson, Leandra Tolusso, Neeta Vora, Tsegaselassie Workalemahu, Roni Zemet‐Lazar   +37 more
wiley   +1 more source

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease

Orphanet Journal of Rare Diseases, 2013
Background Clinical observations and molecular analysis of the SMPD1 gene in Chinese patients with acid sphingomyelinase deficiency Niemann-Pick disease (NPD) are scarce.
Zhang Huiwen, Wang Yu, Gong Zhuwen, Li Xiaoyan, Qiu Wenjuan, Han Lianshu, Ye Jun, Gu Xuefan   +7 more
doaj   +1 more source

Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report

Molecular Genetics and Metabolism Reports, 2020
Acid sphingomyelinase deficiency (ASMD; also known as Niemann-Pick Disease [NPD] A and B) is a rare lysosomal storage disease characterized by the pathological accumulation of sphingomyelin within multiple cell types throughout the body.
Beth L. Thurberg
doaj   +1 more source

Association Between the Root Canal Microbiome and Apical Lesion Size: An Observational Shotgun Metagenomic Study

International Endodontic Journal, Volume 59, Issue 10, Page 2211-2222, October 2026.
ABSTRACT Aim The aim was to characterize the taxonomic and functional composition of the microbiome involved in primary endodontic infections and to evaluate their association with the periapical lesion size using shotgun metagenomic sequencing. Methodology Samples from primary root canal infections diagnosed with apical periodontitis were analysed ...
Virginia Pérez‐Carrasco, David Uroz‐Torres, Ana Soriano‐Lerma, Miguel Soriano, Jose Antonio García‐Salcedo, Maria Teresa Arias‐Moliz   +5 more
wiley   +1 more source

Favorable clinical response to olipudase alfa in a patient with two variants of uncertain significance in SMPD1: a case report

Egyptian Journal of Medical Human Genetics
Background Acid sphingomyelinase deficiency (ASMD), also known as Niemann–Pick disease, is a rare lysosomal storage disorder caused by biallelic pathogenic variants in the Sphingomyelin phosphodiesterase 1 (SMPD1) gene, leading to the deficient activity ...
Luz María Sánchez-Sánchez, Jorge Álvarez-Longoria, Beatriz De la Fuente-Cortez, Valentina Martínez-Montoya, Ekaterina Sánchez-Romero   +4 more
doaj   +1 more source

The Antidiabetic Potential of Alpha‐Mangostin: A Review of Preclinical and Clinical Evidence

AgriFood: Journal of Agricultural Products for Food, Volume 2, Issue 3, Page 262-284, September 2026.
Alpha‐mangostin is a compound from the pericarp of Garcinia mangostana. The antidiabetic effects of alpha‐mangostin include enhancing insulin secretion, improving glucose uptake through GLUT receptor upregulation, reducing oxidative stress and inflammation, promoting wound healing, reducing HbA1C, reducing HOMA‐IR index, and decreased mRNA expressions ...
Oliver Dean John, Nur Damia Iwani Zulkiflee, Siti Raihanah Shafie, Ramlah George, Melonney Patrick   +4 more
wiley   +1 more source

Pharmacological Inhibition of Small Extracellular Vesicle Secretion by ALK5i SD‐208 via Lysosomal Rerouting of CD63+ Compartments

Journal of Extracellular Vesicles, Volume 15, Issue 9, September 2026.
ABSTRACT Pharmacological tools to selectively modulate extracellular vesicle (EV) secretion are scarce. Here, we identify the ALK5 (TGF‐β receptor I) inhibitor SD‐208 as a potent suppressor of small EV (sEV) secretion that acts independently of its canonical anti‐fibrotic activity.
Rahul Sanwlani, Georgina H. Thompson, Kyle Bramich, Ching‐Seng Ang, Millie L. Trowbridge, Chris E. Duringer, Vlad Stolojan, Sean M. Davidson, Konstantinos Savvatis, John H. McVey, Suresh Mathivanan, Aled Clayton, Patrizia Camelliti   +12 more
wiley   +1 more source

Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy

Diseases
Introduction: The differential diagnosis of splenomegaly is a complex process that encompasses a wide variety of diseases. Moreover, it is not always standardized and lacks a definitive consensus on which tests should be performed and in what order ...
Marta Morado Arias, Jesús Villarrubia Espinosa, Isidro Vitoria Miñana, Enrique Calderón Sandubete, Víctor Quintero, Miguel Ángel Torralba-Cabeza   +5 more
doaj   +1 more source

Twenty- five years of biochemical diagnosis of Gaucher disease: the Egyptian experience

Heliyon, 2019
Background: Gaucher disease is a rare multi-systemic metabolic disorder resulting from the deficiency of acid β-glucosidase activity, with consequent accumulation of glucocerebroside. Less than 15% of mean normal acid β-glucosidase activity in leukocytes
Ekram Fateen, Zeinab Y. Abdallah
doaj   +1 more source

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

Orphanet Journal of Rare Diseases, 2017
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B).
Mcgovern, Margaret M., Avetisyan, Ruzan, Sanson, Bernd-Jan, Lidove, Olivier   +3 more
openaire   +3 more sources