Results 61 to 70 of about 9,190 (179)

EXPRESSION OF HUMAN AND MOUSE HPRT MINIGENES: 31 [PDF]

Pediatric Research, 1985
A hypoxanthine phosphoribosyltransferase (HPRT) minigene has been constructed from both human and mouse HPRT cDNA by the addition of proper transcription initiation and polyadenylation signals from genomic subclones of the HPRT gene. Calcium phosphate mediated gene transfer of these HPRT minigenes into HPRT deletion lines has shown stable ...
S M Chang, T Y Tsao, P I Patel, A C Chinault, D W Melton, C T Caskey   +5 more
openaire   +1 more source

Pre‐Encoded IFN‐I Sensitivity Exacerbates Memory T Cell Senescence in Solid Tumors

Advanced Science, Volume 13, Issue 35, 24 June 2026.
Type I interferon (IFN‐I) signaling promotes p21‐dependent cell cycle arrest in senescent tumor‐specific memory T cells, resulting in poor proliferative responses and solid tumor regression during cancer vaccination. Conversely, IFNα/β receptor blockade reinvigorates T cell proliferation to regress solid tumors and is more effective with increasing ...
Andrew Nguyen, Scott R Walsh, Li Deng, Lan Chen, Yonghong Wan   +4 more
wiley   +1 more source

Compound heterozygous splicing and missense variants in MYO7A in a Chinese patient with Usher syndrome

Frontiers in Medicine
ObjectiveThe objectives of the present study were to identify the genetic variations in a Chinese patient with Usher syndrome and to determine the pathogenicity of the identified variations.MethodsWhole-exome sequencing was performed for the proband ...
Juyi Li, Huihui Mao, Lu Li, Xiufang Wang, Guohua Yang, Jiguo Yu, Aiping Deng, Jifa Hu, Dan Wu, Peiyan Zhan, Yingbo Li   +10 more
doaj   +1 more source

Characterization of Variegate Porphyria Mutations Using a Minigene Approach [PDF]

, 2014
Porphyrias are a group of metabolic diseases that affect the skin and/or nervous system. In 2008, three unrelated patients were diagnosed with variegate porphyria at the CIPYP (Centro de Investigaciones sobre Porfirinas y Porfirias). Sequencing of the protoporphyrinogen oxidase gene, the gene altered in this type of porphyria, revealed three previously
Barbara Xoana, Granata, Marco, Baralle, Laura, De Conti, Victoria, Parera, Maria Victoria, Rossetti   +4 more
openaire   +2 more sources

Transcription of a yeast ribosomal RNA minigene in Saccharomyces cerevisiae [PDF]

Biochemical Journal, 1984
A transcription system using intact yeast has been developed for investigating which sequences are implicated in the initiation of transcription of yeast rRNA genes. The system employs an rRNA minigene that consists of the initiation and termination sites for rRNA biosynthesis separated by approx.
R V, Quincey, R E, Arnold
openaire   +2 more sources

NAT10‐mediated N4‐acetylcytidine modification drives RNA splicing of PML to alleviate adipose‐derived stem cell senescence and promote diabetic wound healing

Clinical and Translational Medicine, Volume 16, Issue 6, June 2026.
N‐acetyltransferase 10 (NAT10) catalyses N4‐acetylcytidine (ac4C) modification of PML pre‐mRNA, shifting splicing from the senescence‐promoting PML‐FL to the senescence‐inhibiting PML‐S isoform via SRSF1. This rejuvenates adipose‐derived stem cells (ADSCs) by reducing senescence markers and senescence‐associated secretory phenotype (SASP), thereby ...
Wuhan Wei, Chanyuan Jiang, Dong Zhu, Xuefeng Han, Xuan Ma, Xinyu Jia, Jiaqi Ling, Rui Zhang, Facheng Li, Ningbei Yin   +9 more
wiley   +1 more source

Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations

Molecular Therapy: Nucleic Acids, 2016
Fabry disease is a rare X-linked lysosomal storage disorder caused by deficiency of the α-galactosidase A (α-Gal A) enzyme, which is encoded by the GLA gene.
Lorenzo Ferri, Giuseppina Covello, Anna Caciotti, Renzo Guerrini, Michela Alessandra Denti, Amelia Morrone   +5 more
doaj   +1 more source

UGT1A1 Fragment Analysis: Genotyping the (TA)n Variable Repeat Polymorphism for Clinical Applications

Journal of Clinical Laboratory Analysis, Volume 40, Issue 12, June 2026.
This study developed a PCR‐based fragment analysis assay for UGT1A1 rs3064744 targeting TA5 (*36), TA6 (*1), TA7 (*28), and TA8 (*37). The assay was CLIA validated with data showing 100% concordance and a sensitivity of 0.5 ng/uL. The assay was then implemented in a patient cohort of n = 940 and the results compared with PharmacoScan.
Ryan N. Baugher, Kristen M. Pike, Teri M. Plona, Stephanie D. Mellott, Todd B. Young, Heidi E. Lawhorn, Stephen M. Hewitt   +6 more
wiley   +1 more source

Functional analysis of a novel variant in the COL5A1 gene in a Polish patient with the classical type of Ehlers–Danlos syndrome

Frontiers in Genetics
Ehlers–Danlos syndrome (EDS) is a clinically and genetically diverse group of inherited connective tissue disorders. According to the 2017 International Classification, 13 EDS subtypes are associated with pathogenic variants in 19 genes, most of which ...
Anna Junkiert-Czarnecka, Karolina Maciak, Magdalena M. Kacprzak, Agnieszka Łobodzińska, Agnieszka Sobczyńska-Tomaszewska, Aneta Jurkiewicz, Monika Gora, Beata Burzynska, Maria Pilarska-Deltow, Olga Haus   +9 more
doaj   +1 more source

Clinical and Genetic Characterization of Inherited NPRL3 Splice Variants in Two Patients With Epilepsy

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
This study identifies two novel inherited NPRL3 splice variants in Chinese pediatric patients with focal epilepsy, revealing significant genetic heterogeneity, incomplete penetrance, and phenotypic variability that underscores the importance of tailored antiepileptic management.
Shouxing Wang, Jihua Wu, Conglei Song, Yuanzhi He, Zhongli Zhao, Bin Yang   +5 more
wiley   +1 more source