Results 121 to 130 of about 90,557 (301)

Fluorogenic Coupled Assays Reveal Catalytic Properties, Inhibition Constants and Cellular Location of Mucin‐Active Carbohydrate Sulfatases

Angewandte Chemie, EarlyView.
We report plate‐based coupled assays to rapidly and quantitatively determine the activity and selectivity of mucin‐active carbohydrate sulfatases. This fluorogenic assay further enables inhibitor identification and allows determination of (sub‐)cellular location. ABSTRACT Sulfated glycans play a central role in human health and influence cell signaling,
Charles W. E. Tomlinson, Madouc D. Bergers, David N. Bolam, Ana S. Luis, Alan Cartmell, Zachary Armstrong   +5 more
wiley   +2 more sources

Establishment of human induced pluripotent stem cell line MURAi001-A from skin fibroblasts of a patient carrying a c.4404A > G mutation in the TET1 gene

Stem Cell Research
Ten-Eleven Translocation methylcytosine dioxygenase 1 (TET1) is known to play a broad tumor suppressor role through demethylating and activating tumor suppressor genes. TET1 missense mutations are previously reported in many types of leukemia.
Amornrat Tangprasittipap, Pawarit Innachai, Sukanya Chumchuen, Wararat Chiangjong, Natini Jinawath, Nongnuch Sirachainan, Suradej Hongeng   +6 more
doaj   +1 more source

Germ-line origin of intron 1 inversion in two haemophilia A families

, 2003
Factor VIII gene inversion of intron 1 has recently been reported to be the mutation responsible for haemophilia A in about 5% of severe cases. In our series of patients, which is made up of 77 Italian cases negative for intron 22 inversion, the mutation
Molinari, A. C, Acquila, M, Bottini, F, SANTORO, Cristina, Pasino, M, Lanza, T, Bicocchi, M. P.   +6 more
core   +1 more source

Adipocyte Myoglobin Is a Determinant of Energy Expenditure and a Potential Target to Limit Obesity

Advanced Science, EarlyView.
Myoglobin, known as a muscle oxygen‐carrying protein, is shown to play a key role in fat cells that burn energy. Loss of myoglobin reduces the body's ability to generate heat and increases obesity risk, while restoring it improves metabolism. The study identifies myoglobin as a regulator of fat burning and a potential target to enhance energy ...
Christian Strehlau, Helen Broghammer, Claudia Gebhardt, Anne Hoffmann, Tobias Hagemann, Şeyma Midilli, Rachel S. Zimmer, Kristin Schubert, Vasiliki Karagiannakou, Anastasia Georgiadi, Mario Ost, Martin Krüger, Lisa Roth, Kerstin Krause, Nora Klöting, Maria Keller, Martin Wabitsch, Rima Nuwayhid, Roland H. Stimson, Michael Stumvoll, Matthias Blüher, Juliane Weiner, John T. Heiker   +22 more
wiley   +1 more source

Generation of XPA p.Arg228T mutant LUMCi004-A cell line for modeling Xeroderma pigmentosum group A

Stem Cell Research
Xeroderma pigmentosum group A (XPA) is an inherited skin disorder characterized by sensitivity to ultraviolet radiation. In Maghrebi patients, a homozygous mutation in exon 6 of the XPA gene (c.682C>T) results in the introduction of a premature ...
Halida P. Widyastuti, Babet van der Vaart, Spyridon T. Pachis, Christian Freund, Xavier Gidrol, Karine Raymond   +5 more
doaj   +1 more source

Natural Variation of COLD and CATECHINS REGULATOR 1 Coordinately Fine‐Tunes Cold Tolerance and Tea Quality in Tea Plants

Advanced Science, EarlyView.
Multi‐trait genome‐wide association mapping identifies a central hub regulator, COLD AND CATECHINS REGULATOR 1 (CCR1), and its excellent natural allele variation, coordinately enhancing cold tolerance and promoting catechins biosyntheis. CsCCR1 interacts with CsCBF1/3 and is transcriptionally activated by CsLUX and CsKUA1 to promote catechins ...
Yanli Wang, Wei Tong, Qiong Wu, Didi Wu, Yanrui Zhang, Qijuan Gao, Fangdong Li, Zhaoliang Zhang, Wenjie Wang, Chuankui Song, Enhua Xia   +10 more
wiley   +1 more source

Metastatic Castration-Resistant Prostate Cancer with Neuroendocrine Transformation and BRCA 1 Germ-Line Mutation: A Case Report and Literature Review. [PDF]

Onco Targets Ther, 2020
Wu Y, Gao Y, Dou X, Yue J.
europepmc   +1 more source

The KIF6‐RBP Complex Orchestrates mRNA Transport Required for Sperm Flagellar Assembly

Advanced Science, EarlyView.
Two homozygous deleterious KIF6 variants are identified in unrelated men with impaired sperm motility. Mouse models and multi‐omics analyses reveal that KIF6 cooperates with the RNA‐binding proteins FMRP and FXR1 to deliver mRNAs essential for sperm flagellar assembly, linking disrupted mRNA transport to reduced abundance of key structural and ...
Chunbo Xie, Sibing Yi, Xinle Lin, Shen Zhang, Weili Wang, Shimin Yuan, Lanlan Meng, Yong Li, Chen Tan, Chunjia Wei, Yanyan Yu, Yaoqiong Liang, Huan Zhang, Liang Hu, Guangxiu Lu, Wenbin He, Qianjun Zhang, Juan Du, Ge Lin, Chaofeng Tu, Yue‐Qiu Tan   +20 more
wiley   +1 more source

Inverse relationship between genetic diversity and epigenetic complexity

, 2008
Early studies of molecular evolution revealed a correlation between genetic distance and time of species divergence. This observation provoked the molecular clock hypothesis and in turn the ‘Neutral Theory’, which however remains an ...
Shi Huang
core   +1 more source

eEF1G Orchestrates Translation to Ensure Meiotic Progression in Transcriptionally Quiescent Spermatocytes

Advanced Science, EarlyView.
eEF1G supports translation elongation of meiotic mRNAs in transcriptionally quiescent leptotene and zygotene spermatocytes. Its depletion in germ cells causes meiotic arrest at the zygotene stage, with defective homologous synapsis and unstable recombination intermediates.
Jianze Xu, Yuwei Hu, Xukun Lu, Yuling Cai, Tongtong Li, Ming Gao, Jinlong Ma, Yuan Gao, Shangming Liu, Zi‐Jiang Chen, Jing Meng, Hongbin Liu, Xiaohua Jiang   +12 more
wiley   +1 more source