Results 51 to 60 of about 2,335 (161)

Aspartame Increases the Risk of Pancreatic Ductal Adenocarcinoma

eFood, Volume 7, Issue 3, June 2026.
Aspartame (APM) is a widely used artificial sweetener associated with various health concerns, including potential links to diabetes, cardiovascular diseases, and an increased risk of cancer. A comprehensive approach incorporating data mining, machine learning, network toxicology, molecular docking, molecular dynamics simulations, and clinical sample ...
Jumin Xie, Wei Fang, Zean Song, Zhang Yu, Ying Zhu, Shaoping Liu   +5 more
wiley   +1 more source

Mir-16 Decreases the Expression of VTI1B and SMPD1, Genes Involved in Membrane-Protein Trafficking in Melanoma. [PDF]

Cancers (Basel)
Introduction: The interface between T cells and the tumor microenvironment, termed the ‘immunological synapse’, consists of multiple checkpoint protein pairs co-expressed on both sides of the synapse. mir-16, a microRNA from a widely known tumor-suppressor family of miRNAs, was previously shown by us to be downregulated in melanoma.
Layani A, Meningher T, Sidi Y, Avni D, Leibowitz R.   +4 more
europepmc   +3 more sources

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Acid sphingomyelinase deficiency (ASMD) is a rare debilitating lysosomal storage disease resulting in multisystemic disease manifestations, significant disease burden, and early mortality for some individuals. Enzyme replacement therapy (ERT) with olipudase alfa (Xenpozyme) is the first disease‐specific treatment indicated for noncentral ...
Melissa P. Wasserstein, Carla E. Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Robin Lachmann, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Beth L. Thurberg, Jesus Villarrubia, Nicole M. Armstrong, Shashi Bhushan, Yong Kim, Monica Kumar   +20 more
wiley   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 636-642, May 2026.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

靶向SMPD1基因的RNA干扰对人成纤维细胞凋亡的保护作用

Zhongshan Daxue xuebao. Yixue kexue ban, 2007
【目的】以人包皮成纤维细胞（HFF）为模型,通过系统比较针对不同靶点的小干扰RNA（siRNA）对酸性鞘磷脂酶1（SMPD1）基因的沉默效果,筛选获得最有效的小干扰RNA序列,同时观察沉默SMPD1对细胞凋亡的保护作用。【方法】设计合成三对靶向SMPD1基因的小干扰RNA作为实验组,同时设立阴性对照组和脂质体组（lipofectamine 2000）,瞬时转染原代培养的HFF细胞,采用荧光定量RT-PCR法及Western blot测定SMPD1表达抑制情况,并用化疗药物丝裂霉素诱导细胞凋亡 ...
高军, 周灿权, 张仁礼, 马芸
doaj  

MAVISp: A modular structure‐based framework for protein variant effects

Protein Science, Volume 35, Issue 5, May 2026.
Abstract The role of genomic variants in disease has expanded significantly with the advent of advanced sequencing techniques. The rapid increase in identified genomic variants has led to many variants being classified as Variants of Uncertain Significance or as having conflicting evidence, posing challenges for their interpretation and ...
Matteo Arnaudi, Mattia Utichi, Kristine Degn, Matteo Tiberti, Ludovica Beltrame, Karolina Krzesińska, Pablo Sánchez‐Izquierdo Besora, Eleni Kiachaki, Simone Scrima, Laura Bauer, Katrine Meldgård, Anna Melidi, Lorenzo Favaro, Anu Oswal, Guglielmo Tedeschi, Terézia Dorčaková, Alberte Heering Estad, Joachim Breitenstein, Jordan Safer, Paraskevi Saridaki, Valentina Sora, Francesca Maselli, Philipp Becker, Jérémy Vinhas, Alberto Pettenella, Matteo Lambrughi, Claudia Cava, Anna Rohlin, Mef Nilbert, Sumaiya Iqbal, Peter Wad Sackett, Burcu Aykac Fas, Elena Papaleo   +32 more
wiley   +1 more source

Involvement of Huanglian Jiedu Decoction on Microglia with Abnormal Sphingolipid Metabolism in Alzheimer’s Disease

Drug Design, Development and Therapy, 2022
Yi-Yu Qi,1,* Xia Heng,1,* Zeng-Ying Yao,2 Shu-Yue Qu,1 Ping-Yuan Ge,1 Xin Zhao,1 Sai-jia Ni,2 Rui Guo,3 Nian-Yun Yang,1 Qi-Chun Zhang,2 Hua-Xu Zhu1 1Department of Traditional Chinese Medicine Processing and Preparation, Nanjing University of ...
Qi YY, Heng X, Yao ZY, Qu SY, Ge PY, Zhao X, Ni S, Guo R, Yang NY, Zhang QC, Zhu HX   +10 more
doaj  

Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)

Genomics, 1992
Acid sphingomyelinase (ASM; HGMW-approved symbol, SMPD1) is the lysosomal phosphodiesterase that hydrolyzes sphingomyelin to ceramide and phosphocholine. The deficient activity of this enzyme results in Types A and B Niemann-Pick disease (NPD). The full-length cDNA encoding human ASM has been isolated and characterized (E. H. Schuchman, M.
E H, Schuchman, O, Levran, L V, Pereira, R J, Desnick   +3 more
openaire   +2 more sources

Analysis of Genetic Variation of rs1542705 Marker in SMPD1 Gene Region as an Informative Marker for Molecular Diagnosis of Niemann-Pick Disease in Isfahan Population [PDF]

Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2016
Background: Niemann-Pick disease (NPD) refers to a group of lysosomal storage diseases that causes abnormal metabolism of lipids. One of the genes that play a role in the pathogenesis of this disease is SMPD1.
Nasim Ebrahimi, Sadegh Vallian Borujeni
doaj  

Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A [version 1; referees: 2 approved]

F1000Research, 2015
A 14-month-old child, recently diagnosed with Niemann-Pick disease type A, presented for a laparoscopic placement of a gastrostomy tube under general anesthesia.
Priti G. Dalal, Melissa Coleman, Meagan Horst, Dorothy Rocourt, Roger L. Ladda, Piotr K. Janicki   +5 more
doaj   +1 more source