Results 61 to 70 of about 10,064 (198)

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

New components in genetic regulation of age‐dependent compound leaf architecture in pea

New Phytologist, EarlyView.
Compound leaf development in pea (Pisum sativum). Summary Pea (Pisum sativum L.) is a classic model for compound leaf development. Pea leaves typically consist of a proximal series of paired lateral leaflets substituted distally by filiform tendrils, and the number of lateral organ pairs increases with ontogeny.
Jacqueline K. Vander Schoor, Chantelle J. Beagley, Warwick Gill, Grégoire Aubert, Judith Burstin, Robert J. E. Wiltshire, Valérie Hecht, James L. Weller   +7 more
wiley   +1 more source

Natural Variation in GmSL20 Improves Seed Size and Quality in Soybean

Plant Biotechnology Journal, EarlyView.
ABSTRACT Seed size plays an important role in determining crop yield, yet the genetic mechanisms underlying the regulation of this agronomic trait remain incompletely understood in soybean. Here, we perform a genome‐wide association study mapping with seed length variations and identify a major quantitative trait locus (QTL) on chromosome 20, named ...
Yuechuan Luo, Zongbiao Duan, Juxu Li, Zhou Zhu, Tong Wu, Dan Li, Yangping Liu, Liangwei Xu, Hao Wen, Yanting Shen, Shulin Liu, Qingtian Li, Zhixi Tian   +12 more
wiley   +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

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

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

Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals

Molecular Genetics and Metabolism Reports, 2017
Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments.
J. Pérez-López, L. Ceberio-Hualde, J.S. García-Morillo, J.M. Grau-Junyent, A. Hermida Ameijeiras, M. López-Rodríguez, J.C. Milisenda, M. Moltó Abad, M. Morales-Conejo, J.J. Nava Mateos   +9 more
doaj   +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

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

hERG1 channels and potential therapeutics for long QT syndrome

The Journal of Physiology, EarlyView.
Abstract figure legend Prolonged QT results from hERG1 channel dysfunction. (A) Physiological anterograde trafficking of hERG1 channels to the plasma membrane, leading to a normal electrocardiogram. (B) Prolonged QT results from the presence of fewer hERG1 channels on the plasma membrane due to decreased anterograde trafficking or reduced function due ...
Elizabeth H. Schneider, Kelly A. Aromolaran, Michael C. Sanguinetti, Ademuyiwa S. Aromolaran   +3 more
wiley   +1 more source