Results 41 to 50 of about 6,948 (153)

Targeted next generation sequencing in patients with inborn errors of metabolism [PDF]

, 2018
BACKGROUND: Next-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster.
Armstrong i Morón, Judith, Artuch Iriberri, Rafael, Brandi, Nuria, Campistol Plana, Jaume, Garcia-Cazorla, Àngels, Ormazabal Herrero, Aida, Palau Martínez, Francesc, Pérez Dueñas, Belén, Ribes Rubió, Maria Antònia, Yubero Siles, Dèlia   +9 more
core   +1 more source

Physiological and Morphological Responses of Grain Sorghum to Varying Temperature, Irrigation and Carbon Dioxide Levels

Journal of Sustainable Agriculture and Environment, Volume 5, Issue 1, March 2026.
ABSTRACT The increasing frequency and unpredictability of adverse growing conditions pose significant challenges to crop productivity and ecosystem sustainability. Early‐stage vigour strongly influences crop establishment and yield potential, making it essential to understand sorghum responses for developing resilient cultivars.
Lekshmy V. Sankarapillai, Kambham Raja Reddy, Krishna N. Reddy, Raju Bheemanahalli   +3 more
wiley   +1 more source

Discovery of metabolite biomarkers: flux analysis and reaction-reaction network approach [PDF]

, 2013
published_or_final_versio
Ching, WK, JIANG, H, LI, L, QIU, Y, Vassiliadis, VS   +4 more
core   +1 more source

Genome‐wide association and haplotype analyses reveal genetic architecture of seed dormancy in grain sorghum with implications for preharvest sprouting tolerance

The Plant Genome, Volume 19, Issue 1, March 2026.
Abstract Preharvest sprouting (PHS), triggered primarily by wet or humid conditions at maturity and further influenced by temperature, causes premature grain germination in sorghum (Sorghum bicolor (L.) Moench), reducing yield and grain quality. To elucidate the genetic architecture of seed dormancy and germination responses related to PHS tolerance ...
Yusa Ichinose, Dinesh Kumar Saini, Juliana M. Espíndola Lima, Gunvant B. Patil, Impa Somayanda, S. V. Krishna Jagadish   +5 more
wiley   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

LABRAD : Vol 39, Issue 2 - December 2013 [PDF]

, 2013
Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core   +1 more source

Functional and Nutraceutical Properties of Protein and Polyphenols Extracted From Agro‐Industrial Waste: A Comprehensive Review

eFood, Volume 7, Issue 1, February 2026.
The article underscores the promising future perspectives of utilizing agro‐industrial waste, envisioning sustainable production processes, and meeting the increasing demand for environmentally friendly and health‐promoting products. ABSTRACT The growing imperative for increased food production has propelled an example alteration in the perception of ...
Fakhar Islam, Ali Imran, Areesha Ahmed, Faiyaz Ahmed, Musarrat Rasheed, Amar Shankar, Neeraj Khare, Swati Sharma, Rutaba Nadeem, Abdela Befa Kinki   +9 more
wiley   +1 more source

Newborn screening using tandem mass spectrometry: A systematic review [PDF]

Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core  

A novel mechanism of auxin habituation: upregulation of auxin receptor TRANSPORT INHIBITOR RESPONSE 1 allows cell proliferation independent of external auxin

New Phytologist, Volume 249, Issue 3, Page 1268-1282, February 2026.
Summary Exogenously applied auxins are essential for establishing cell lines in tissue cultures and maintaining their proliferation. Cell lines may develop the ability to proliferate even in media lacking auxin, they may become auxin‐habituated. This study investigated the mechanisms underlying this process.
Pavel Jelínek, Karel Müller, Eliška Kobercová, Adéla Přibylová, Milada Čovanová, Petre I. Dobrev, Roberta Vaculíková, Zuzana Vondráková, Lenka Helusová, Anita Bírošíková, Lukáš Fischer, Jan Petrášek   +11 more
wiley   +1 more source

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies [PDF]

, 2011
Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare, life-threatening condition. Early diagnosis by screening asymptomatic newborns may improve outcome, but the benefit to newborns identified with variants not encountered clinically is ...
Andresen, BS, Besley, G, Dalton, RN, Dezateux, C, Downing, M, Green, A, Henderson, M, Khalid, JM, Krywawych, S, Leonard, J, Oerton, J   +10 more
core   +3 more sources