Results 161 to 170 of about 314 (196)

Beyond Sequence: Posttranslational Remodeling of Antigens in Autoimmunity

Immunological Reviews, Volume 341, Issue 1, August 2026.
ABSTRACT Autoimmune responses are often attributed to failed tolerance to self‐proteins, yet protein expression alone cannot explain why certain antigens dominate disease, why autoreactivity emerges under stress, or why specific HLA alleles shape risk.
Cynthiya Shrestha, Holly M. Weisfelder, Thanh D. Do   +2 more
wiley   +1 more source

Circular RNAs in Lotus japonicus Responses to Nutrient Supply and Mesorhizobium Symbiosis

Plant, Cell &Environment, Volume 49, Issue 8, Page 4823-4839, August 2026.
ABSTRACT Symbiotic interactions between legumes and rhizobia enable nitrogen fixation under low nutrient conditions. The establishment and function of symbiotic interactions require coordinated changes in gene expression in both the host and the microbe. Circular RNAs (circRNAs) are endogenous gene‐specific molecules that can regulate transcription and
Delecia Utley, Asa Budnick, Simona Radutoiu, Heike Sederoff   +3 more
wiley   +1 more source

Muir–Torre Syndrome Associated With a Cryptic Intronic MSH2 Variant Identified via Whole‐Genome Sequencing: A Case Report

Pathology International, Volume 76, Issue 8, August 2026.
Pathological suspicion persisted despite negative multigene panel testing in a patient with synchronous sebaceous and colonic tumors showing concordant MSH2/MSH6 loss. Whole‐genome sequencing identified a cryptic intronic MSH2 variant (c.2459‐12A>G), and RNA analysis confirmed aberrant splicing with protein truncation. This case highlights the value of
Keisuke Noda, Hirokazu Kurohama, Katsuya Matsuda, Akira Kinoshita, Hiroyuki Mishima, Megumi Matsumoto, Riko Matsuda, Nozomi Ueki, Masao Kishikawa, Kiyonori Miura, Takashi Nonaka, Koh‐ichiro Yoshiura, Keitaro Matsumoto, Masahiro Nakashima   +13 more
wiley   +1 more source

The structured mRNA element 45ABC mediates auto‐ and cross‐regulation of RBP45 genes via alternative splicing

The Plant Journal, Volume 127, Issue 4, August 2026.
SUMMARY Alternative splicing (AS) is a common gene regulatory mechanism involving distinct interactions between trans‐acting factors and cis‐regulatory elements on the precursor messenger RNA (pre‐mRNA). In this study, we have functionally characterized the structured motif 45ABC, which is located in the pre‐mRNAs of RNA‐binding protein (RBP) 45 genes ...
Maren Reinhardt, Rica Burgardt, Christoph Engel, Maximilian Sack, Zasha Weinberg, Andreas Wachter   +5 more
wiley   +1 more source

Acute capillary blood DNA methylation responses to swimming exercise in high‐performance male and female swimmers

Experimental Physiology, Volume 111, Issue 8, Page 3648-3666, 1 August 2026.
Abstract Epigenetic markers, particularly DNA methylation, are promising tools for monitoring athlete health and training due to their role in cellular regulation, exercise responsiveness and molecular stability. However, exercise‐induced epigenetic changes in peripheral blood in trained individuals remain unexplored.
C. D. Goldsmith, N. G. Lawler, D. B. Pyne, M. Kozlovskaia, K. McGibbon, L. J. G. Mitchell, A. D. Govus   +6 more
wiley   +1 more source

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A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue

Molecular Genetics and Metabolism, 2023
Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by variants in PCCA or PCCB, both sub-units of the propionyl-CoA carboxylase (PCC) enzyme. PCC is required for the catabolism of certain amino acids and odd-chain fatty acids. In its absence, the accumulated toxic metabolites cause metabolic acidosis, neurologic symptoms, multi-
Alina Kurolap, Adi Mory, Ortal Barel
exaly   +3 more sources

Detecting pathogenic deep intronic variants in Gitelman syndrome

American Journal of Medical Genetics Part A, 2022
AbstractGitelman syndrome (GS) is a rare, autosomal recessive, salt‐losing tubulopathy caused by loss of function in the SLC12A3 gene (NM_000339.2), which encodes the natrium chloride cotransporter. The detection of homozygous or compound heterozygous SLC12A3 variants is expected in GS, but 18%–40% of patients with clinical GS carry only one mutant ...
Rini Rossanti, Tomoko Horinouchi, Nana Sakakibara, Tomohiko Yamamura, China Nagano, Shinya Ishiko, Yuya Aoto, Atsushi Kondo, Sadayuki Nagai, Hiroyuki Awano, Hiroaki Nagase, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu   +13 more
openaire   +2 more sources

Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia

The Journal of Molecular Diagnostics, 2023
Phenylalanine hydroxylase (PAH) deficiency or phenylketonuria (PKU) is the most common cause of hyperphenylalaninemia (HPA), and approximately 5% of patients remain genetically unsolved. Identifying deep intronic PAH variants may help improve their molecular diagnostic rate.
Xiaomei Luo, Ruifang Wang, Yu Sun, Wenjuan Qiu, Deyun Lu, Yu Wang, Zhuwen Gong, Huiwen Zhang, Lianshu Han, Lili Liang, Xuefan Gu, Yongguo Yu, Bing Xiao   +12 more
openaire   +2 more sources

Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion

Human Genetics, 2023
Dravet syndrome is a devastating epileptic syndrome characterized by intractable epilepsy with an early age of onset, regression of developmental milestones, ataxia, and motor deficits. Loss-of-function pathogenic variants in the SCN1A gene are found in the majority of patients with Dravet syndrome; however, a significant number of patients remain ...
Peter Sparber, Igor Bychkov, Denis Pyankov, Mikhail Skoblov   +3 more
openaire   +2 more sources

Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants

Journal of Neurology, 2022
Phenotypic heterogeneity within or between families with a same deep-intronic splice-altering variant in the DMD gene has never been systematically analyzed. This study aimed to determine the phenotypic and genetic characteristics of patients with deep-intronic DMD variants.Of 1338 male patients with a suspected dystrophinopathy, 38 were confirmed to ...
Zhiying Xie, Chengyue Sun, Chang Liu, Zhihao Xie, Luhua Wei, Jiaxi Yu, Chen Ling, Xuejun Guo, Yilin Liu, Meng Yu, Yinglin Leng, Lingchao Meng, Yunchuang Sun, Jianwen Deng, Suzanne M. Leal, Isabelle Schrauwen, Zhaoxia Wang, Yun Yuan   +17 more
openaire   +2 more sources