Results 131 to 140 of about 473,993 (259)

Serotyping in heterozygous combinations.

, 2014
Figure shows representative ion chromatograms of the wild-type (E3/E3) and all heterozygous combinations (E2/E3, E3/E4, E2/E4). Tryptic peptide polymorphisms correspond to each ApoE isoform.
Setsu Sawai (508902), Sachio Tsuchida (508903), Mamoru Satoh (508898), Shoko Kakinuma (508900), Sayaka Kado (508905), Takeshi Kazama (508904), Satomi Nishimura (508899), Kenichi Sato (508901), Fumio Nomura (355486), Yoshio Kodera (508906), Kazuyuki Matsushita (355478), Motoi Nishimura (355473)   +11 more
core   +1 more source

The Adipose‐Sympathetic Nerve Crosstalk: FSTL1 as an Adipocyte‐Derived Neurotrophic Factor for WAT Browning

Advanced Science, EarlyView.
As a novel adipose‐derived neurotrophic factor, Follistatin‐like 1 is endocytosed by sympathetic neurons primarily via tropomyosin‐related kinase B. This process promotes sympathetic innervation in adipose tissue and norepinephrine release, leading to white adipose tissue browning, enhanced thermogenesis, and anti‐obesity effects in mice.
Xiao‐Wei Jia, Jia‐Xin Liu, Rui‐Ping Wang, Xue‐Qin Wu, Yao Che, Mu‐Chen Wu, Hong‐Wei Shang, Xin Lu, Tao Lu, Lu‐Lu Wang, Chun‐Yan Jiang, Dong‐Liang Fang, Chun Yang, Yan Gao   +13 more
wiley   +1 more source

OAF Blocks SIAH1‐Mediated Degradation of SCPX, a Therapeutic Strategy for MASLD

Advanced Science, EarlyView.
This study shows OAF directly binds to SCPX and inhibits its interaction with the E3 ligase SIAH1, thereby protecting SCPX from ubiquitin‐dependent degradation and stabilizing its levels. This OAF‐SCPX axis represents a novel pathway in lipid homeostasis, highlighting OAF as a promising therapeutic candidate for MASLD.
Zongxi Li, Jingyue Song, Kaili Ma, Shunan Tang, Shuqian Wang, Wenya Ji, Chen Lu, Ting Zhang, Huaping Zheng, Xiaowei Zheng, Shanshan Lai, Cheng Deng   +11 more
wiley   +1 more source

Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature

Journal of Genetic Engineering and Biotechnology
Background: Spondyloepimetaphyseal dysplasias (SEMD) are a large group of skeletal disorders represented by abnormalities of vertebrae in addition to epiphyseal and metaphyseal areas of bones. Several genes have been identified underlying different forms.
Hoda A. Ahmed, R. Elhossini, M. Aglan, Khalda Amr   +3 more
doaj   +1 more source

Heterozygous (DEL-90-C2) embryo E17.5

, 2018
Heterozygous deletion of the genomic region (DEL-90-C2) analyzed at embryonic day E17.

core   +1 more source

Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders

Advanced Science, EarlyView.
An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee, Chanju Jung, Minjeong Kim, Narae Kim, Gue‐Ho Hwang, Soon‐Tae Lee, Kon Chu, Sang Kun Lee, Han‐Joon Kim, Jong‐Hee Chae, Sangsu Bae, Jangsup Moon   +11 more
wiley   +1 more source

Carbohydrate‐Mediated Cellular Uptake of Boronic Acid Hybrids In Cellulo and Insulin‐Deficient Zebrafish: Live Imaging and Application of Multiphoton FLIM

Advanced Science, EarlyView.
Boronic acid‐based fluorescent hybrids have been used as part of a versatile platform for real‐time metabolic bioimaging across cellular and organismal scales. Including glucose‐responsive imaging in living cells and in an insulin‐deficient vertebrate model, this work opens new opportunities for the development of precision diagnostics, metabolic ...
Haobo Ge, John S. Fossey, David Gonzalez Calatayud, Stephen E. Flower, Sabrina Wang, Hanna Aitessaid, Melita Tvardauskaite, Julia Dudzic, Max Jewell, Charareh Pourzand, Stanley W. Botchway, David Gurevich, Tony D. James, Sofia I. Pascu   +13 more
wiley   +1 more source

Deubiquitination of Vangl by USP6 and USP32 Regulates Planar Cell Polarity Signaling

Advanced Science, EarlyView.
Compartment‐specific deubiquitination controls Vangl dosage and planar cell polarity signaling. USP6 and USP32 regulate distinct subcellular pools of Vangl by removing distinct ubiquitin modifications from Vangl proteins. This regulatory mechanism safeguards PCP‐dependent embryonic morphogenesis, while aberrant USP32‐dependent stabilization of VANGL ...
Fangzi Zha, Di Feng, Ziru Xue, Zhiying Liu, Xiaochen Lin, Zhe Wang, Ling Xu, Jasper Fuk Woo Chan, Martin Cheung, Michael Shing Yan Huen, Yusong Guo, Kui Ming Chan, Yun Liu, Bo Gao   +13 more
wiley   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

SVhet: towards accurate detection of germline heterozygous deletions using short reads

BMC Bioinformatics
Background Accurate structural variant detection from short-read sequencing data remains challenged by false positives, particularly for heterozygous deletions where reduced allelic support and coverage-based detection methods are ambiguous.
Chun Hing She, Sophelia Hoi-Shan Chan, Wanling Yang   +2 more
doaj   +1 more source