Results 151 to 160 of about 143,230 (264)

Two adult 46,XY sisters with female-like phenotype due to a novel homozygous <i>LHCGR</i> splice-site variant. [PDF]

JCEM Case Rep
Meirelles MG, Scalco RC, Marques JM, Lima Junior J, Bueno CF, Mendonca BB.   +5 more
europepmc   +1 more source

Charting the Future of Stereoselective Carbohydrate Synthesis: The Essential Role of Cross‐Disciplinary Innovation

Advanced Science, EarlyView.
Cross‐disciplinary endeavors are blossoming across the broad chemical sciences. This perspective provides a glimpse into the rewarding interdisciplinary journey taken by the Charles Loh research group in pioneering the σ‐hole based catalytic glycosylation strategy.
Charles C. J. Loh
wiley   +1 more source

Tunable Reversible Photochromic Ultralong Organic Phosphorescence via a Universal Phenylpyridine Noncovalent Assembly Strategy

Advanced Science, EarlyView.
A concise supramolecular assembly strategy using α‐cyclodextrin and phenylpyridine derivatives affords dual‐functional materials with switchable multicolor photochromism and tunable ultralong organic phosphorescence, offering new platforms for various photonic applications. ABSTRACT Supramolecular photochromic materials capable of reversible alteration
Xue Bai, Renliang Wang, Hong‐Jin Xue, Zhuofan Jiang, Shuo Yang, Chiming Li, Yanqing Ge, Caihong Liu, Xian‐Yin Dai   +8 more
wiley   +1 more source

A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières syndrome type 5: a case report and literature review. [PDF]

Front Pediatr
Yousaf H, Zonash Z, Manzoor J, Ali A, Khalid LB, Zafar G, Ali S, Toft M, Fatima A, Iqbal Z.   +9 more
europepmc   +1 more source

Similarity of nucleotide sequences at splicing sites [PDF]

Nature, 1988
T A, Brown, N J, Dyson
openaire   +2 more sources

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

Advanced Science, EarlyView.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu   +23 more
wiley   +1 more source

Characterization of a novel inherited splice-site variant in <i>MAPK8IP3</i> expands the genetic and phenotypic spectrum of neurodevelopmental disorders. [PDF]

Biochem Biophys Rep
Yi S, Yang Q, Song X, Huang L, Yi S, Qin Z, Luo J.   +6 more
europepmc   +1 more source

Microprotein MP104 Promotes Malignant Progression of Colorectal Cancer Through Regulating Protein Translation

Advanced Science, EarlyView.
A previously unrecognized microprotein, MP104, encoded by ZEB1‐AS1, emerges as a critical driver of colorectal cancer progression. MP104 links ubiquitin‐mediated protein degradation with translational reprogramming via the UBE2O–AMPKα2–mTOR–EIF4B axis, revealing an unrecognized layer of oncogenic regulation.
Fang Chen, Miao Wang, Hongmei Yong, Jin Ding, Shiping Xu, Qirui Ge, Yan Wang, Lei Zhang, Qianqian Xiao, Benli Li, Li Lin, Sufang Chu, Qianqing Wang, Jin Bai, Pingfu Hou   +14 more
wiley   +1 more source

Identification of a Novel Splice-Site Variant in CACNA1F With Variable Phenotypic Expression in a Chinese Family. [PDF]

Mol Genet Genomic Med
Li M, Chen C, Li Y, Wen T, Zhou H, Xie W.   +5 more
europepmc   +1 more source

CA9‐Targeted PET Imaging for Noninvasive Discrimination of Clear Cell Renal Cell Carcinoma and Associated Tumor Biological Features

Advanced Science, EarlyView.
CA9‐targeted PET imaging could be a noninvasive approach to characterize clear cell renal cell carcinoma and associated tumor biology. PET uptake correlates with tumor CA9 expression and is linked to angiogenic activity, immune remodeling, and metabolic reprogramming.
Kailei Chen, Sixuan Cheng, Jian Shi, Ruijie Liu, Yilong Wu, Xin Zheng, Xinlun Song, Yunxuan Zhang, Lei Liu, Zhihao Wei, Qi Wang, Xinwei Li, Zirui Dong, Yuenan Liu, Hongmei Yang, Xiaoli Lan, Chunxia Qin, Dawei Jiang, Keshan Wang, Xiaoping Zhang   +19 more
wiley   +1 more source