Results 61 to 70 of about 24,745,339 (132)

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

"Test me and treat me" - attitudes to vitamin D deficiency and supplementation: a qualitative study [PDF]

, 2015
© 2015 BMJ Open, "Test me and treat me"-attitudes to vitamin D deficiency and supplementation: a qualitative study.
Jakeways, Niki; id_orcid, Hull, Sally, Sohanpal, Ratna, Famakin, O, Sohanpal, R, Gadhvi, Dev, Kotta, S, Jakeways, N, Famakin, Olufunke, Martineau, Adrian, Martineau, A, Kotta, Siddharth, Saeed, M, Hull, S, Saeed, Maryum, Griffiths, Chris, Gadhvi, D, Griffiths, C   +17 more
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

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

Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis

Orphanet Journal of Rare Diseases
Background Congenital disorders of glycosylation (CDG) are genetic diseases caused by impaired synthesis of glycan moieties linked to glycoconjugates.
Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone, Matteo Cioni   +10 more
doaj   +1 more source

Vitamin B-12 deficiency stimulates osteoclastogenesis via increased homocysteine and methylmalonic acid [PDF]

, 2009
The risk of nutrient deficiencies increases with age in our modern Western society, and vitamin B(12) deficiency is especially prevalent in the elderly and causes increased homocysteine (Hcy) and methylmalonic acid (MMA) levels.
Bravenboer, N., Vaes, Bart L T, Vaes, B.L.T., Everts, V., Wilma T. Steegenga, Bravenboer, Nathalie, Steegenga, W.T., Lute, Carolien, Carolien Lute, de Groot, L.C.P.G.M., Müller, M.R., Henk J. Blom, de Groot, C.P.G.M., Muller, M., Dhonukshe-Rutten, R.A.M., de Groot, Lisette C P G M, Dhonukshe-Rutten, R.A., Bart L. T. Vaes, Teun J. de Vries, Blom, Henk J, Nathalie Bravenboer, Groot, L.C.P.G.M. de, de Vries, Teun J, Müller, Michael, Everts, Vincent, Rosalie A. Dhonukshe-Rutten, Michael Müller, de Vries, T.J., Lisette C. P. G. M. de Groot, Dhonukshe-Rutten, Rosalie A, Steegenga, Wilma T, Groot, C.P.G.M., de, Lute, C., Vries, T. J., Blom, H.J., Everts, V, Vries, T.J., de, Vincent Everts   +37 more
core   +2 more sources

Beneficial effects of Glc-1,6-P2 modulation on mutant phosphomannomutase-2 [PDF]

: The metabolite Glucose-1,6-bisphosphate (Glc-1,6-P2) plays a vital role in human metabolism, and is a crucial activator and stabilizer for phosphomannomutase-2 (PMM2) - mutations within this protein propagate the most common congenital disorder of ...
Cubellis, Maria Vittoria, Andreotti, Giuseppina, Monti, Maria Chiara, Paris, Debora, Morretta, Elva, Kodrikova, Rebeka, Monticelli, Maria, Nemcovic, Marek, Pakanova, Zuzana   +8 more
core   +1 more source

AAV-based gene replacement reverses Neurexin-2 downregulation in the cerebellum of a mouse model of phosphomannomutase 2 deficiency (PMM2-CDG)

Abstract Phosphomannomutase 2 (PMM2) deficiency is the most common congenital disorders of glycosylation (CDG) with an estimated incidence ranging from 1:20,000 to 1:80,000. Patients manifest a broad spectrum of clinical manifestations, with neurological deficits often emerging as the earliest sign, and may progress ...
Zhong, M, Lai, K
openaire   +2 more sources

Temporary nutrient deficiency - a difficult case for diagnosis and prognosis by plant analysis [PDF]

, 2000
Plant analysis aims to either detect deficiency at the time of sampling (diagnosis) or predict its occurrence at a later stage of growth (prognosis). Its use is based on the presumption that the plant nutrient status will either be constant with plant ...
Richard W. Bell, Bell, R.W.
core   +1 more source

Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation

, 2013
Phosphomannomutase 2 (PMM2) deficiency represents the most frequent type of congenital disorders of glycosylation. For this disease there is no cure at present.
A. Giordano, G. Andreotti, E. Pedone, CUBELLIS, MARIA VITTORIA   +3 more
core   +1 more source