Results 81 to 90 of about 4,590,707 (207)

Comparative Genome‐Wide Association Studies of Metabolites and Grain‐Related Traits in Common Wheat

Plant Biotechnology Journal, EarlyView.
ABSTRACT The metabolome is highly diverse and the closest layer to phenotype; therefore, it is commonly regarded as a bridge between the genome and phenome in plants. Here, we performed large‐scale metabolome analysis using liquid chromatography–tandem mass spectrometry (LC–MS/MS) and 33 grain‐related traits in a diverse panel of natural accessions and
Guoguo Lv, Yanyan Liu, Bingyang Zhang, Ranran Shen, Maosong Yu, Yongyang Wu, Wanting Du, Xinru Yuan, Congwei Sun, Yan Yan, Wei Chen, Feng Chen   +11 more
wiley   +1 more source

The digital epidemiology of phenylketonuria, aka folling’s disease: retrospective analysis and geographic mapping via google trends

Asian Journal of Medical Sciences, 2018
Background: Phenylketonuria, commonly known as PKU, is an inherited disorder in which there is an abnormally elevated blood level of the amino acid phenylalanine leading to several pathologies affecting multiple organs including the central nervous ...
Ahmed Al-Imam
doaj   +1 more source

Liver-directed gene-based therapies for inborn errors of metabolism

, 2020
Inborn errors of metabolism include several genetic disorders due to disruption of cellular biochemical reactions. Although individually rare, collectively they are a large and heterogenous group of diseases affecting a significant proportion of patients.
Piccolo, Pasquale, Brunetti-Pierri, Nicola, Rossi, Alessandro, Alessandro Rossi, Pasquale Piccolo, Nicola Brunetti-Pierri   +5 more
core   +1 more source

Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening

, 2023
<p>Objective: Pathologic results in expanded metabolic screening tests may be due to the medications, inappropriate sampling methods, or the maternal originated inborn errors of metabolism.
Oguzhan Tin, Tanyel Zubarioglu, Tin, Oguzhan, Cansever, Mehmet Serif, Cigdem Aktuglu-Zeybek, Zuebarioglu, Tanyel, Aktuglu-Zeybek, Cigdem, Mehmet Serif Cansever, Ertugrul Kiykim, Kiykim, Ertugrul, Zübarioğlu, TANYEL, Kıykım, ERTUĞRUL   +11 more
core   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

Cannabinoid exposure during pregnancy: Cardiorespiratory effects and offspring outcomes

The Journal of Physiology, EarlyView.
Abstract figure legend Prenatal exposure to cannabinoids has been investigated across human and animal studies to understand its impact on physiological development. Evidence suggests that early‐life cannabinoid exposure influence multiple developmental processes, extending beyond neurodevelopmental outcomes to potentially affect placental function ...
Luis Gustavo A. Patrone, Luciane H. Gargaglioni   +1 more
wiley   +1 more source

Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding

BMC Medical Genomics
Background Alkaptonuria (AKU) is a rare autosomal recessive inborn error of metabolism caused by deficiency of homogentisate 1,2-dioxygenase (HGD), its deficiency results in homogentisic acid (HGA) accumulation, which oxidizes to form melanin-like ...
María Camila León – Sanabria, Ana María Zarante-Bahamón   +1 more
doaj   +1 more source

Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center

Genetics and Molecular Biology, 2019
Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects to cell ...
Moacir Wajner, Angela Sitta, Aline Kayser, Marion Deon, Ana C. Groehs, Daniella M. Coelho, Carmen R. Vargas   +6 more
doaj   +1 more source

Virus‐specific alterations in placental structure and transporter expression following maternal arbovirus infection

The Journal of Physiology, EarlyView.
Abstract figure legend Arboviruses induce virus‐specific alterations in placental structure and functional markers. Chikungunya virus (CHIKV) exposure was associated with reduced syncytiotrophoblast and syncytial knot areas, increased cytotrophoblast proliferation (Ki‐67) and thyroid transporter (MCT8) expression, reduced protective (P‐gp and BCRP ...
Cherley B. V. Andrade, Enrrico Bloise, Natália L. Silva, Jair R. S. Braga, Sharton V. A. Coelho, Veronica M. O. Nascimento, Guinever E. Imperio, Camila O. S. Nunes, Antônio J. L. A. Cunha, Marcelo A. Pascoal‐Xavier, Luciana B. Arruda, Arnaldo Prata‐Barbosa, Kristin L. Connor, Tania M. Ortiga‐Carvalho   +13 more
wiley   +1 more source

Early Metabolic Profile in Neonates with Maternal Intrahepatic Cholestasis of Pregnancy

Children
Background/Objectives: Intrahepatic cholestasis of pregnancy (ICP) is associated with adverse perinatal outcomes. However, its metabolic consequences on newborns remain inadequately characterized.
Bengisu Guner Yilmaz, Saygin Abali, Ariorad Moniri, Umut Kilinckaya, Ekin Altinbas, Beril Ay, Bengisu Karakose, Yusuf Sahinoglu, Melis Sahinoglu, Bugra Yilmaz, Mustafa Serteser, Ayse Korkmaz, Ozlem Pata, Serdar Beken   +13 more
doaj   +1 more source