Results 71 to 80 of about 233,128 (302)

Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia

, 2002
Heterozygous mutations in neutrophil elastase have been detected in many sporadic cases of congenital neutropenia. However, a convincing pathogenetic mechanism has not been established, and it is unclear whether the effects of the mutant enzyme occur ...
Ancliff, PJ, Gale, RE, David C. Linch, Rosemary E. Gale, Ri Liesner, Phil J. Ancliff, Ian M. Hann, Strobel, S, Liesner, R, Hann, IM, Watts, MJ, Michael J. Watts, Stephan Strobel, Linch, DC   +13 more
core   +1 more source

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

FEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe, Tanmay Kumar Mohanty, Rashna Bhandari, Dorothea Fiedler   +3 more
wiley   +1 more source

K-Ras and β-catenin mutations cooperate with Fgfr3 mutations in mice to promote tumorigenesis in the skin and lung, but not in the bladder [PDF]

, 2011
The human fibroblast growth factor receptor 3 (FGFR3) gene is frequently mutated in superficial urothelial cell carcinoma (UCC). To test the functional significance of FGFR3 activating mutations as a ‘driver’ of UCC, we targeted the expression of mutated
Taketo, M.M., Leung, H.Y., Hing Y. Leung, Wu, X.-R., Iwata, T., Mona Foth, Morris, C.-A., Owen J. Sansom, Lukram Babloo Singh, Tomoko Iwata, Imran Ahmad, Carol-Ann Morris, Makoto Mark Taketo, Singh, L.B., Foth, M., Sansom, O.J., Xue-Ru Wu, Ahmad, I.   +17 more
core   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Genes enriched with somatic mutations.

, 2021
Genes enriched with somatic mutations.
Lilja Jansson (9620924), Miko Valori (5865947), Pentti J. Tienari (9620939)   +2 more
core   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Somatic mutation rates scale with time not growth rate in long-lived tropical trees

eLife
The rates of appearance of new mutations play a central role in evolution. However, mutational processes in natural environments and their relationship with growth rates are largely unknown, particular in tropical ecosystems with high biodiversity. Here,
Akiko Satake, Ryosuke Imai, Takeshi Fujino, Sou Tomimoto, Kayoko Ohta, Mohammad Na'iem, Sapto Indrioko, Widiyatno Widiyatno, Susilo Purnomo, Almudena Molla Morales, Viktoria Nizhynska, Naoki Tani, Yoshihisa Suyama, Eriko Sasaki, Masahiro Kasahara   +14 more
doaj   +1 more source

Somatic mutations during rapid clonal domestication of Populus alba var. pyramidalis

Evolutionary Applications, 2022
For many clonally propagated species, the accumulation of somatic mutations is the principal driver of declines in yield and quality. However, somatic mutations may also promote genetic diversification.
Zeyu Zheng, Hongyin Hu, Weixiao Lei, Jin Zhang, Mingjia Zhu, Ying Li, Xu Zhang, Jianchao Ma, Dongshi Wan, Tao Ma, Guangpeng Ren, Dafu Ru   +11 more
doaj   +1 more source

The planar cell polarity protein Vangl2 interacts with the PDZ‐domains of Scribble but not with a unique PDZ‐like domain in Inturned

FEBS Letters, EarlyView.
Structural and biochemical characterisations show that the planar cell polarity (PCP) protein Inturned harbours a unique PDZ‐like domain that does not bind canonical PDZ‐binding motifs (PBMs) like that of another PCP protein Vangl2. In contrast, the apical‐basal polarity protein Scribble contains four PDZ domains that bind Vangl2, but one PDZ domain ...
Stephan Wilmes, Jan Brysch, Carmen Gelze, Lilli Meier, Daniel Kümmel   +4 more
wiley   +1 more source

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer

, 2011
: BACKGROUND: Structural rearrangements form a major class of somatic variation in cancer genomes. Local chromosome shattering, termed chromothripsis, is a mechanism proposed to be the cause of clustered chromosomal rearrangements and was recently ...
Cuppen, E., Marlous Hoogstraat, Lieshout, S., van, Stef van Lieshout, Ivo Renkens, van Lieshout, S., Roosmalen van, M., Belt van de, J., Marco Koudijs, Hoogstraat, M., Voest, E.E., Koudijs, M.J., Isaac J Nijman, Edwin Cuppen, van Roosmalen, M., Ruben van 't Slot, José van de Belt, Masoumeh Tavakoli-Yaraki, Wijnand Roessingh, Vermaat, J.S., Slot, R., van 't, Nijman, I.J., Kloosterman, W.P., Lieshout van, S., Emile Voest, Renkens, I., Oscar Paling, Joost S Vermaat, Vermaat, J.E., Wigard P Kloosterman, Van't Slot, R., Belt, J., van de, van de Belt, J., Roessingh, W., Paling, O., Slot Van't, R., Guryev, V., Roosmalen, M.J., van, Tavakoli-Yaraki, M., Victor Guryev, Markus J van Roosmalen   +40 more
core   +1 more source