Results 91 to 100 of about 340,700 (262)

Early mesodermal phenotypes in splotch suggest a role for Pax3 in the formation of epithelial somites [PDF]

, 2001
The paired box containing transcription factor Pax3 is a crucial regulator of dermomyotome and muscle development. However, the allelic series of Pax3/Splotch mutants also displays characteristic vertebral column malformations, which do not result from ...
Schubert, Frank, Dietrich, Susanne, Schubert, F R, Kammandel, B, Lumsden, A, Mansouri, A, Tremblay, P., Tremblay, P, Schubert, F., Dietrich, S, Mansouri, A., Lumsden, A., Dietrich, S., Faisst, A., Gruss, P, Faisst, A M, Gruss, P., Kammandel, B.   +17 more
core   +1 more source

How much do model organism phenotypes contribute to the computational identification of human disease genes?

, 2022
Computing phenotypic similarity has been shown to be useful in identification of new disease genes and for rare disease diagnostic support. Genotype-phenotype data from orthologous genes in model organisms can compensate for lack of human data to greatly
Alghamdi, Sarah M., Schofield, Paul N., Hoehndorf, Robert   +2 more
core   +1 more source

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

FEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise, Tiziano Mazza, Raffaella Scanga, Lara Console, Michele Galluccio, Cesare Indiveri   +5 more
wiley   +1 more source

Leucine‐rich glioma inactivated 1 (LGI1) is a ganglioside‐binding protein

FEBS Letters, EarlyView.
Neuronal hyperexcitability associated with a decrease/absence of the extracellular protein LGI1 has been suggested to be primarily due to the downregulation of Kv1 channel expression. The molecular mechanisms underlying this decrease have not yet been elucidated.
Kévin Debreux, Christian Lévêque, Fodil Azzaz, Marion Sangiardi, Sarosh R Irani, Michael Seagar, Jacques Fantini, Oussama El Far   +7 more
wiley   +1 more source

A context‐dependent modulatory role for eIF6 in acquired resistance to vemurafenib in melanoma

FEBS Letters, EarlyView.
Acquired resistance to vemurafenib upregulates the translation factor eIF6 in melanoma cells. Silencing eIF6 in resistant cells reduces proliferation and partially restores drug sensitivity, whereas its overexpression increases sensitivity across melanoma lines regardless of BRAF status, via modulation of mTOR, S6K, and MAPK signaling.
George Kyriakopoulos, Antonia Petropoulou, Alexandra Anastogianni, Angelina Bania, Vassilis Stamatakis, Argyris Alexiou, Chi‐Ping Day, Glenn Merlino, Katerina Grafanaki, Constantinos Stathopoulos   +9 more
wiley   +1 more source

Distinguishing phenotypes of childhood wheeze and cough using latent class analysis [PDF]

, 2008
Airway disease in childhood comprises a heterogeneous group of disorders. Attempts to distinguish different phenotypes have generally considered few disease dimensions.
Spycher, B D, Brooke, A M, Minder, C E, Kuehni, C E, Silverman, M   +4 more
core   +1 more source

Asthma phenotypes

Journal of General and Family Medicine, 2017
AbstractCurrently, categorization based on cluster analysis by objectively grasping the diversity of pathology is being conducted and the diversity of asthma is being categorized as phenotypes. Clinically, there is categorization based on aging and on allergic diathesis which is clinically useful; however, it has not, up to now, come to the point of ...
Hirose, Masahiro, Horiguchi, Takahiko
openaire   +2 more sources

The ubiquitin system in normal and infected germinal center B cells

FEBS Letters, EarlyView.
The ubiquitin system plays a central role in germinal center (GC) B cells, influencing differentiation to long‐lived memory B cells. Oncogenic gammaherpesviruses gain access to memory B cells by establishing latency in GC B cells. Mapping ubiquitin mechanisms in normal and infected GC B cells will define specific molecular circuits in B cells germane ...
Destiny Davis, Lesly Mejia, Emily K Moser   +2 more
wiley   +1 more source

Sputum inflammatory phenotypes are not stable in children with asthma

, 2012
Two distinct, stable inflammatory phenotypes have been described in adults with asthma: eosinophilic and non-eosinophilic. Treatment strategies based on these phenotypes have been successful.
Tsartsali, Lemonia, Fleming, Louise, Bush, Andrew, Regamey, Nicolas, Wilson, Nicola   +4 more
core   +1 more source

Tissue-specific and sex-biased glycoproteomic landscape of Schistosoma mansoni

Nature Communications
Schistosomiasis is a major global health burden, with praziquantel as the sole treatment. Its inability to prevent reinfection highlights the need for new interventions such as vaccines.
Xu Chen, Yanmin You, Wenxiao Liu, Shan Li, Cun Yi, Mengjie Gu, Wenjun Cheng, Gongwen Chen, Yuepeng Wang, Enlu Tang, Liming Wei, Haojie Lu, Wei Hu, Jipeng Wang   +13 more
doaj   +1 more source