Results 71 to 80 of about 427,788 (354)

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

Incidence of breast cancer among blood groups of women in the holy Governorate of Karbala

Medical Journal of Babylon, 2023
Introduction: Breast cancer is a significant problem that affects women all over the world and is a leading cause of death among these patients. ABO blood groups are stable and vary by socioeconomic, geographical, and ethnic groupings. Blood type affects
Ahmed Khudhair Abdulridha Al-Ganimi, Aqeel S Abd Al-Salam   +1 more
doaj   +1 more source

Blood group and Rhesus antigens among Blood donors attending the Central Blood Bank, Sudan [PDF]

, 2013
Background: It is well known that the Rhesus system remains the second most clinically important blood group system after the ABO. There is no published work regarding the frequency of various Rhesus antigens among Sudanese population.Objectives: In ...
Abass, A-E, Adam, I, Hussien, SM, Khalil, HB, Shahata, WM   +4 more
core   +2 more sources

Biologically‐Inspired Melt Electrowriting for the Generation of Highly Biomimetic Functional Myocardium

Advanced Functional Materials, EarlyView.
In this work, melt electrowriting is used to fabricate a 3D printed scaffold design that generates engineered cardiac tissues with in‐plane contraction, mimicking natural myocardium. It is shown that these tissues display advanced maturation and functionality.
Olalla Iglesias‐García, María Flandes‐Iparraguirre, Pilar Montero‐Calle, Ricardo M. Rosales, Asier Ullate‐Agote, Andrea Sánchez‐Bueno, Eduardo Larequi, Ilazki Anaut‐Lusar, Nicolás Laita, Aida Oliván‐Viguera, Elena Iglesias, Gloria Abizanda, Patxi San Martín‐Úriz, Paula Aguirre‐Ruiz, Xabier L. Aranguren, Manuel García de Yébenes, Juan José Gavira, Miguel Ángel Martínez, Estefanía Peña, Manuel Doblaré, Elena M. de‐Juan‐Pardo, Esther Pueyo, Felipe Prosper, Manuel M. Mazo Vega   +23 more
wiley   +1 more source

Prevalence of Principal Rh Blood Group Antigens in Blood Donors at the Blood Bank of a Tertiary Care Hospital in Southern India [PDF]

Journal of Clinical and Diagnostic Research, 2016
Introduction: Rhesus (Rh) antigen was discovered in 1940 by Karl Landsteiner and Wiener. Due to its immunogenicity along with A, B antigens, Rh D antigen testing was made mandatory in pre-transfusion testing. Presently there are more than 50 antigens
DEEPTHI KRISHNA GUNDRAJUKUPPAM, SREEDHAR BABU KINNERA VIJAYA, ARUN RAJENDRAN, JOTHIBAI DORAIRAJ SARELLA   +3 more
doaj   +1 more source

Biodegradable, Humidity‐Insensitive Mask‐Integrated E‐Nose for Sustainable and Non‐Invasive Continuous Breath Analysis

Advanced Functional Materials, EarlyView.
This study introduces a paper‐based biodegradable, humidity‐insensitive e‐nose for real‐time breath analysis, addressing challenges in existing technologies such as humidity interference, high costs, and environmental impact. Featuring hydrophobic polymer coatings, these sensors reliably detect VOCs even in high‐moisture environments.
Indrajit Mondal, Adan Zoabi, Hossam Haick   +2 more
wiley   +1 more source

Novel Less Toxic, Lymphoid Tissue‐Targeted Lipid Nanoparticles Containing a Vitamin B5‐Derived Ionizable Lipid for mRNA Vaccine Delivery

Advanced Healthcare Materials, Volume 14, Issue 7, March 14, 2025.
The top‐performing lipid nanoparticle, incorporating a novel ionizable lipid derived from vitamin B5, demonstrates high mRNA transfection efficiency, low toxicity, favorable stability, targeted delivery to lymphoid tissues, and high immunogenicity, showing promise as a carrier for mRNA vaccines for infectious diseases and cancer.
Soyeon Yoo, Muhammad Faisal, Seo‐Hyeon Bae, Kounghwa Youn, Hyo‐Jung Park, Sung Pil Kwon, Il Kwon Hwang, Jisun Lee, Hyeong Jun Kim, Jae‐Hwan Nam, Gyochang Keum, Eun‐Kyoung Bang   +11 more
wiley   +1 more source

Critical analysis of two cases of major crossmatch incompatibility in tertiary care hospital in Delhi

Asian Journal of Transfusion Science, 2020
Rh blood group is one of the most complexes of the human blood groups system. RHD gene encodes the D antigen, and the RHCE encodes the C, c, E, and e antigens.
Vandana Puri, Geetika Sharma, Aruna Chhikara   +2 more
doaj   +1 more source

Gasotransmitters in Modern Medicine: Promises and Challenges in the Use of Porous Crystalline Carriers

Advanced Healthcare Materials, EarlyView.
This perspective provides an overview of the growing interest in utilizing various gasotransmitters—small gaseous signaling molecules namely nitric oxide (NO), carbon monoxide (CO), and hydrogen sulfide (H2S)—for several therapeutic applications, with emphasis on the potential use of porous materials as carriers to provide safe and controlled local ...
Rosana V. Pinto, Moisés L. Pinto, Christian Serre   +2 more
wiley   +1 more source