Results 61 to 70 of about 460,117 (268)

Case Report: Novel pathogenic variant in autosomal recessive WNT10A-related odonto-onycho-dermal dysplasia

Frontiers in Genetics
Odonto-onycho-dermal dysplasia (OODD) is a rare, autosomal recessive disorder caused by pathogenic variants in the WNT10A gene, which plays a crucial role in ectodermal tissue development, including teeth, hair, nails, and skin.
Marianna Kalaszi, Ciaran Moore, Chrysoula Koniari, Theodoros Mavridis   +3 more
doaj   +1 more source

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

FEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi, Pilar Samperio Ventayol, Natalie Burkard, Nicolas Schlegel, Carmen Aguilar, Sina Bartfeld   +5 more
wiley   +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

Functional Consequences of a Novel Variant of PCSK1 [PDF]

PLoS ONE, 2013
Common single nucleotide polymorphisms (SNPs) in proprotein convertase subtilisin/kexin type 1 with modest effects on PC1/3 in vitro have been associated with obesity in five genome-wide association studies and with diabetes in one genome-wide association study.
Pickett, Lindsay A, Yourshaw, Michael, Albornoz, Valeria, Chen, Zijun, Solorzano-Vargas, R Sergio, Nelson, Stanley F, Martín, Martín G, Lindberg, Iris   +7 more
openaire   +5 more sources

Structural insights into an engineered feruloyl esterase with improved MHET degrading properties

FEBS Letters, EarlyView.
A feruloyl esterase was engineered to mimic key features of MHETase, enhancing the degradation of PET oligomers. Structural and computational analysis reveal how a point mutation stabilizes the active site and reshapes the binding cleft, expading substrate scope.
Panagiota Karampa, Konstantinos Makryniotis, Theofani‐Iosifina Sousani, Evangelos Topakas, Vangelis Daskalakis, Maria Dimarogona   +5 more
wiley   +1 more source

NovelACTN1variants in cases of thrombocytopenia [PDF]

Human Mutation, 2019
The ACTN1 gene has been implicated in inherited macrothrombocytopenia. To decipher the spectrum of variants and phenotype of ACTN1-related thrombocytopenia, we sequenced the ACTN1 gene in 272 cases of unexplained chronic or familial thrombocytopenia.
Vincenot, Anne, Saultier, Paul, Kunishima, Shinji, Poggi, Marjorie, Hurtaud-Roux, Marie-Françoise, Roussel, Alain, Biron-Andreani, Christine, Claisse, Jean-François, Dulery, Remy, Durot, Eric, Fiore, Véronique, Favier, Rémi, Fenaux, Pierre, Guerrero, Felipe, Le Cam-Duchez, Véronique, Mazoyer, Elisabeth, Müller, Stephanie, Neven, Benedicte, Pouymayou, Catherine, Royer, Bruno, Sie, Pierre, Thouvenin, Sandrine, Trichet, Catherine, Trillot, Nathalie, Yakouben, Karima, Nicole, Schlegel, Alessi, Marie-Christine   +26 more
openaire   +4 more sources

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

A case report of primary bilateral macronodular adrenal hyperplasia caused by a novel ARMC5 gene variant

Frontiers in Medicine
Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH), also known as adrenocorticotropic hormone-independent macronodular adrenal hyperplasia, is a rare cause of endogenous Cushing’s syndrome (CS) in clinical practice. The pathogenesis
Yu Tang, Yu Tang, Dongxue Li, Dongxue Li, Juan Xia, Yuan Zhong, Zixia Ni, Liwei Tong   +7 more
doaj   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source