Results 121 to 130 of about 1,140,258 (259)

Analysis of β-casein gene for A1 and A2 allelic variants in Holstein-Local crossbred cattle of Bangladesh using allele-specific PCR

Journal of Advanced Biotechnology and Experimental Therapeutics
Beta-casein (CSN2) is one of the important bovine milk proteins synthesized by β-casein gene. The aim of this study was to investigate the A1 and A2 allelic variants of CSN2 gene in Holstein-Friesian and Local (HF×L) crossbred cattle of Bangladesh ...
Mahfuza Ahmed Safa, Monira Akter Mou, Md. Forhad Ahmed Hridoy, Sadia Afrin Siddiqua, Abul Kashem Fazlul Haque Bhuiyan, Mohammad Shamsul Alam Bhuiyan   +5 more
doaj   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Human Papillomavirus Infection of the Oropharyngeal and Laryngeal Squamous Papilloma: Disparities in Prevalence and Characteristics

Diagnostics
Human papillomavirus (HPV) infection has emerged as an etiologic factor of squamous papilloma (SP). The oropharynx and larynx are common sites of SP, but studies on the prevalence of HPV infection in these sites are lacking.
Jihye Kwak, Dongbin Ahn, Mee-seon Kim
doaj   +1 more source

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

Decoding Fujian’s cervical HPV landscape: unmasking dominance of non-16/18 HR-HPV and tailoring prevention strategies at a large scale

Frontiers in Public Health
BackgroundPersistent HR-HPV causes cervical cancer, exhibiting geographic variance. Europe/Americas have higher HPV16/18 rates, while Asia/Africa predominantly have non-16/18 HR-HPV.
Yulong Zhang, Haibo Li, Qianru You, Yusha Chen, Ziyan Zhao, Jiancui Chen, Yanzhao Su, Xiangqin Zheng, Huan Yi, Jianrong Song   +9 more
doaj   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

rs1800925 genotyping by direct sequencing: (a) CC genotype; (b) CT genotype; (c) TT genotype.

, 2015
rs1800925 genotyping by direct sequencing: (a) CC genotype; (b) CT genotype; (c) TT genotype.
Yan Deng (159032), Ming Xie (420493), Li Xie (108913), Yu He (420536), Xue Qin (123365), Ruolin Li (519115), Jian Wang (5901), Taijie Li (519116), Shan Li (110392)   +8 more
core   +1 more source

Low Grade Pulmonary Spindle Cell Neoplasm in a 30‐Year‐Old Asymptomatic Female: A Diagnostic Dilemma: A Case Report

Respirology Case Reports
Pulmonary spindle cell carcinoma is a highly malignant rare variant of sarcomatoid lung carcinomas. This is a case of an asymptomatic 30‐year‐old Filipino female with an incidental finding of pulmonary nodules on chest x‐ray.
Jerica Eliesa Juarez, Albert Lim Rafanan, Matthew Go Yap   +2 more
doaj   +1 more source

Improving access to healthcare services for sickle cell disease patients in Nigeria: perspectives and views of healthcare professionals

Frontiers in Health Services
IntroductionIn sub-Saharan Africa, the burden of sickle cell disease remains high. With annual sickle cell births of about 150,000, Nigeria is reported to have the highest prevalence of the disease globally.
Godspower Onavbavba, Obi Peter Adigwe, Solomon Oloche Onoja   +2 more
doaj   +1 more source