Results 51 to 60 of about 27,924 (252)

Histidinaemia in a consanguineous marriage [PDF]

Journal of Medical Genetics, 1974
Support to the autosomal recessive inheritance for histidinaemia is given by the finding of an affected product from a first-cousin marriage. The histidine loading test done on the parents confirms previous reports that female heterozygous metabolize the amino acid at a slower rate than male heterozygous.
I, Rostenberg, J, Guïzar, I, Alejandre, S, Benïtez, S, Armendares   +4 more
openaire   +2 more sources

Salmonella enterica serovar typhi limits the potency of typhoid toxin and ADP‐ribosylating toxin AB to establish a persistent infection

FEBS Open Bio, EarlyView.
The two catalytic subunits of typhoid toxin dissociate from the holotoxin in the ER of an intoxicated cell, but only CdtB exits the ER to generate immunosuppressive effects. PltA is retained in the ER and sequestered from its cytosolic target, thus allowing the anti‐inflammatory effects of CdtB to promote intestinal colonization.
Maria C. Zabala‐Rodriguez, Juliette K. Tinker, Teresa Frisan, Taj Azarian, Ken Teter   +4 more
wiley   +1 more source

BCG vaccination potentiates oxidative phosphorylation in neonatal myeloid‐derived suppressor cells

FEBS Open Bio, EarlyView.
BCG vaccination enhances oxidative phosphorylation in neonatal MDSCs, impairing their immunosuppressive function. It upregulates electron transport chain genes and mitochondrial activity, increasing ATP and oxygen consumption. Pharmacological OXPHOS inhibition partially restores suppressive capacity, confirming causality.
Yingying Chen, Hui Li
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

The effect of Consanguineous Marriages on Congenital Malformation

Journal of Research in Medical Sciences, 2005
Background: Consanguinity has been a long-standing social habit among some of Iranians. The estimation of consanguinity ratios in different parts of Iran ranged from 30 to 85%.
A Mehrabi Kushki, B Zeyghami
doaj  

Data‐Driven Materials Science for Energy‐Sustainable Applications

Advanced Materials, EarlyView.
Data‐driven approaches powered by artificial intelligence are transforming materials discovery for energy sustainability. This review examines how auto‐generated high‐quality materials databases and domain‐specific language models accelerate research in photovoltaics, thermoelectrics, batteries and magnetic materials. Applications involve extraction of
Jacqueline M. Cole
wiley   +1 more source

Frequency and Patterns of Consanguinity Marriages in Hamadan

پزشکی بالینی ابن سینا, 2000
In  a  cross-sectional  study, the  frequency and types of consanguinity     marriages in Hamadan city were determined in 1996.          In this study the randomly selected couples were interviewed.
Hamid Pour-Jafari, Nahid Anvari
doaj  

Waveguide Photoactuators: Materials, Fabrication, and Applications

Advanced Robotics Research, EarlyView.
Waveguide photoactuators convert guided light into mechanical motion. Their tethered‐flexible design enables minimally invasive surgery and confined‐space robotics. This review aims to guide materials selection, device design, and system integration, accelerating the transition of waveguide photoactuators from laboratory prototypes to versatile ...
Minjie Xi, Hemin Pan, Yang Zong, Yongfeng Mei, Jizhai Cui   +4 more
wiley   +1 more source

Risk factors predisposing to congenital heart defects

Annals of Pediatric Cardiology, 2011
Introduction: Congenital heart disease (CHD) is associated with multiple risk factors, consanguinity may be one such significant factor. The role of consanguinity in the etiology of CHD is supported by inbreeding studies, which demonstrate an autosomal ...
Faheem Ul Haq, Fatima Jalil, Saman Hashmi, Maliha Iqbal Jumani, Aamer Imdad, Mehnaz Jabeen, Javad Tauseef Hashmi, Furqan Bin Irfan, Muhammad Imran, Mehnaz Atiq   +9 more
doaj   +1 more source