Results 91 to 100 of about 256,046 (232)

Acute Intermittent Porphyria: Flaccid Quadriplegia and Encephalopathy due to Posterior Reversible Encephalopathy Syndrome (PRES) [PDF]

Liaquat National Journal of Primary Care
A deficiency of the enzyme HMB Hydroxymethylbilane synthase function, also known as porphobilinogen deaminase, leads to the emergence of acute intermittent porphyria (AIP). AIP is an uncommon form of hepatic porphyria inherited in an autosomal dominant
Saba Zaidi, Ayesha Abdul Samad, Ayesha Jaka   +2 more
doaj   +1 more source

Analysis of Nkx3.1:Cre-driven Erk5 deletion reveals a profound spinal deformity which is linked to increased osteoclast activity [PDF]

, 2017
Extracellular signal-regulated protein kinase 5 (ERK5) has been implicated during development and carcinogenesis. Nkx3.1-mediated Cre expression is a useful strategy to genetically manipulate the mouse prostate. While grossly normal at birth, we observed
Ahmad, Imran, Blyth, Karen, Charlesworth, Gemma, Daroszewska, Anna, Ford, Catriona, King, Ayala, Leung, Hing Y., Loveridge, Carolyn J., Mui, Ernest J., Prior, Amanda, Rose, Lorraine, Salji, Mark, Sansom, Owen, Tan, Ee Hong, van ’t Hof, Rob J., Welsh, Michelle   +15 more
core   +2 more sources

Mitochondrial Dysfunction and Defects in Mitochondrial Adaptation to Exercise Training in the Muscle of Patients With COPD: Disease Versus Disuse

Acta Physiologica, Volume 241, Issue 8, August 2025.
ABSTRACT Aim Chronic obstructive pulmonary disease (COPD) is frequently associated with skeletal muscle dysfunction, having a considerable impact on exercise tolerance and patient prognosis. Mitochondria play a role in skeletal muscle weakness and exercise intolerance in COPD, but the majority of studies on mitochondrial function are biased by the fact
Aldjia Abdellaoui, Farés Gouzi, Cécile Notarnicola, Annick Bourret, Amandine Suc, Dalila Laoudj‐Chenivesse, Nelly Héraud, Jacques Mercier, Christian Préfaut, Maurice Hayot, Pascal Pomiès   +10 more
wiley   +1 more source

Screening of Reference Genes for RT-qPCR in Chicken Adipose Tissue and Adipocytes

Frontiers in Physiology, 2021
Reverse transcription quantitative real-time PCR is the most commonly used method to detect gene expression levels. In experiments, it is often necessary to correct and standardize the expression level of target genes with reference genes.
Wei Na, Wei Na, Wei Na, Wei Na, Yuxiang Wang, Yuxiang Wang, Yuxiang Wang, Pengfei Gong, Pengfei Gong, Pengfei Gong, Xinyang Zhang, Xinyang Zhang, Xinyang Zhang, Ke Zhang, Ke Zhang, Ke Zhang, Hui Zhang, Hui Zhang, Hui Zhang, Ning Wang, Ning Wang, Ning Wang, Hui Li, Hui Li, Hui Li   +24 more
doaj   +1 more source

Gene Dosage Sensitivity and Human Genetic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Reiner A. Veitia, Johannes Zschocke, James A. Birchler   +2 more
wiley   +1 more source

Acute intermittent porphyria: a disease with low penetrance and high heterogeneity

Frontiers in Genetics
Acute intermittent porphyria (AIP) is caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS), a key enzyme in the heme biosynthesis pathway.
Jia-Jia Lei, Shuang Li, Bai-Xue Dong, Jing Yang, Yi Ren   +4 more
doaj   +1 more source

Validation of Suitable Reference Genes for Gene Expression Studies on Yak Testis Development

Animals, 2020
Testis has an important function in male reproduction. Its development is regulated by a large number of genes. The real-time reserve transcriptase-quantitative polymerase chain reaction (RT-qPCR) is a useful tool to evaluate the gene expression levels ...
Xuelan Zhou, Xiaoyun Wu, Min Chu, Chunnian Liang, Xuezhi Ding, Jie Pei, Lin Xiong, Pengjia Bao, Xian Guo, Ping Yan   +9 more
doaj   +1 more source

Vitamin D and calcium metabolism in horses in New Zealand : a thesis presented in partial fulfilment of the requirements for the degree of Doctor of Philosophy in Veterinary Science at Institute of Veterinary, Animal and Biomedical Sciences (IVABS), Massey University, Manawatū, New Zealand [PDF]

, 2016
The physiology of vitamin D in horses has not been studied in great depth. Few studies on vitamin D metabolites (25OHD2, 25OHD3, and 1,25(OH)2D) and their relationship to other serum analytes exist. In addition, some studies suggest that equine vitamin D
Azarpeykan, Sara
core  

A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria

Liver International, Volume 45, Issue 7, July 2025.
ABSTRACT Background and Aims This study aimed to characterise symptoms and assess the prevalence of elevated urine porphyrin precursors in first‐degree relatives of acute hepatic porphyria (AHP) patients who have never experienced acute attacks and had no previous AHP genetic or biochemical testing.
Mohsen Merati, Nanditha Jayakumar, Yuvraaj Kapoor, Hetanshi Naik, Manisha Balwani, Karl E. Anderson, Herbert L. Bonkovsky, Robert J. Desnick, Brendan McGuire, John Phillips, D. Montgomery Bissell, Bruce Wang   +11 more
wiley   +1 more source

Human papillomavirus deoxyribonucleic acid may not be detected in non-genital benign papillomatous skin lesions by polymerase chain reaction

Indian Journal of Dermatology, 2014
Background: Papillomatosis is a known histopathologic pattern usually seen in human papillomavirus (HPV) infection and verruca vulgaris is the typical example.
Kamyab Hesari Kambiz, Davoodi Kaveh, Damavandi Maede, Ayatollahi Hossein, Aghazadeh Nessa, Rahbar Ziba, Ghanadan Alireza   +6 more
doaj   +1 more source