Results 91 to 100 of about 4,129 (176)

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

Clinical Genetics, Volume 108, Issue 6, Page 731-741, December 2025.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Lorelei Charbonnier, Julia Metreau, Emmanuelle Benaloun, Audrey Pinson, Geneviève Quenum, Jérôme Bouligand, Gérard Tachdjian, Philippe Labrune, Lucie Tosca   +13 more
wiley   +1 more source

Comparative Genomics of 9 Novel Paenibacillus Larvae Bacteriophages [PDF]

, 2016
American Foulbrood Disease, caused by the bacterium Paenibacillus larvae, is one of the most destructive diseases of the honeybee, Apis mellifera. Our group recently published the sequences of 9 new phages with the ability to infect and lyse P.
Amy, Penny S., LeBlanc, Lucy, Stamereilers, Casey, Tsourkas, Philippos K., Yost, Diane   +4 more
core   +2 more sources

Potential and pitfalls in the genetic diagnosis of kidney diseases [PDF]

, 2017
Next-generation sequencing has dramatically decreased the cost of gene sequencing, facilitating the simultaneous analysis of multiple genes at the same time; obtaining a genetic result for an individual patient has become much easier.
Ashton, E, Bockenhauer, D, Kesselheim, A
core   +1 more source

Optimizing (Bio) Catalysis with Liquid‐Liquid Phase Separation Systems

ChemSystemsChem, Volume 7, Issue 6, November 2025.
This review highlights how LLPS creates membraneless compartments involved in different scenarios in nature. It further explores different examples that focus on the development of synthetic coacervates that enhance catalytic efficiency by concentrating reactants, or by the direct influence of the coacervates building blocks themselves.
David Q. P. Reis, Joana Calvário, Inês Chibeles, Mohit Kumar, Ana S. Pina   +4 more
wiley   +1 more source

Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation

Molecular Genetics and Metabolism Reports
Congenital disorder of glycosylation type Ia (CDG-Ia) is an autosomal recessive genetic disease caused by a mutation in the phosphomannomutase 2 (PMM2) gene. We have identified a 13-month-old boy who has been diagnosed with CDG-Ia.
Dan Zhong, Xiujuan Huang, Taoshan Feng, Jieqing Zeng, Shanshan Gu, Fan Ning, Yue Yang, Jinyuan Zhu, Yajun Wang, Riling Chen, Guoda Ma   +10 more
doaj   +1 more source

Monitoring of transcriptional regulation in Pichia pastoris under protein production conditions [PDF]

, 2007
Background: It has become evident that host cells react to recombinant protein production with a variety of metabolic and intrinsic stresses such as the unfolded protein response (UPR) pathway.
Anamitra Bhattacharyya, Brigitte Gasser, Diethard Mattanovich, Jari Rautio, Markku Saloheimo, Merja Penttilä, Michael Maurer, Michael Sauer   +7 more
core   +3 more sources

Attenuated Strains of Pseudomonas aeruginosa: A Promising Cell Factory for Rhamnolipid Production

Microbial Biotechnology, Volume 18, Issue 11, November 2025.
PGN strains are generated by the deletion of virulence factor genes. The metabolic pathways and regulatory frameworks that lead to high‐efficiency production of rhamnolipids in P. aeruginosa are preserved in these strains. Therefore, PGN strains are promising bio‐safe cell factories for the industrial production of rhamnolipids.
Parvathy V. Das, Meagan E. Valentine, Timothy E. Long, Hongwei D. Yu   +3 more
wiley   +1 more source

Molecular genetic analysis of phosphomannomutase genes in Triticum monococcum

Crop Journal, 2015
In higher plants, phosphomannomutase (PMM) is essential for synthesizing the antioxidant ascorbic acid through the Smirnoff–Wheeler pathway. Previously, we characterized six PMM genes (TaPMM-A1, A2, B1, B2, D1 and D2) in common wheat (Triticum aestivum ...
Chunmei Yu , Xinyan Liu, Qian Zhang , Xinyu He , Wan Huai, Baohua Wang , Yunying Cao , Rong Zhou   +7 more
doaj   +1 more source

One-pot Enzymatic Synthesis of Deoxy-thymidine-diphosphate (TDP)-2-deoxy-∝-d-glucose Using Phosphomannomutase

, 2010
Production of deoxy-thymidine-diphosphate (TDP)-sugars as substrates of glycosyltransferases, has been one of main hurdles for combinatorial antibiotic biosynthesis, which combines sugar moiety with aglycon of various antibiotics. Here, we report the one-
Kang, Young Bok (Abraham), Kim, Byung-Gee, Kim, Dae-Hee, Lee, Hee-Chan, Lee, Kwangwon, Lee, Tek-Hyung, Liou, Kwang-kyung, Park, Sung-Hee, Sohng, Jae-Kyung, Yang, Yung-Hum, Yoo, Dongwon   +10 more
core  

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source