Results 1 to 10 of about 3,006,865 (307)

Low iron mitigates viral survival: insights from evolution, genetics, and pandemics—a review of current hypothesis

Egyptian Journal of Medical Human Genetics, 2020
Background Upon re-examination of our human history, evolutionary perspectives, and genetics, a prevailing iron deficiency phenotype appears to have evolved to protect the human race from extinction. Body In this review, we summarize the evolutionary and
Rahma Menshawey, Esraa Menshawey, Ayman H. K. Alserr, Antoine Fakhry Abdelmassih   +3 more
doaj   +1 more source

Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil

Arquivos de Neuro-Psiquiatria
Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive inherited disorder related to lipid metabolism affecting skeletal muscle. The first cases of CPT II deficiency causing myopathy were reported in 1973.
Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Renata Dal-Pra Ducci, Otto Jesus Hernandez Fustes, Paula Raquel do Vale Pascoal Rodrigues, Raquel Cristina Arndt, Rosana Herminia Scola, Lineu Cesar Werneck   +7 more
doaj   +1 more source

Phenotypic and genetic variation in phosphorus-deficiency-tolerance traits in Chinese wheat landraces

BMC Plant Biology, 2020
Background Phosphorus deficiency is a major limiting factors for affecting crop production globally. To understand the genetic variation of phosphorus-deficiency-tolerance, a total of 15 seedling traits were evaluated among 707 Chinese wheat landraces ...
Yu Lin, Guangdeng Chen, Haiyan Hu, Xilan Yang, Zhengli Zhang, Xiaojun Jiang, Fangkun Wu, Haoran Shi, Qing Wang, Kunyu Zhou, Caixia Li, Jian Ma, Youliang Zheng, Yuming Wei, Yaxi Liu   +14 more
doaj   +1 more source

Alpha 1-antitrypsin deficiency and related liver disease

The Saudi Journal of Gastroenterology, 1999
α1 ,-antitrypsin (α1 AT) deficiency is a relatively common genetic cause of liver disease among Caucasians. It is an autosomal recessive disorder characterized by reduced serum levels of α1 AT, a 52-kD glycoprotein that functions as an ...
Elzouki Abdul-Nasser
doaj  

Refining MMA Screening in the Dutch Newborn Screening Program: Lessons from Vitamin B12 Deficiency and Genetic Cases

International Journal of Neonatal Screening
Since October 2019, screening for methylmalonic acidemia (MMA) has been implemented in the Dutch Newborn Screening (NBS) program. Since implementation, most referrals for MMA have been the result of (maternal) vitamin B12 deficiency. Although vitamin B12
Nils W. F. Meijer, Klaas Koop, Rose E. Maase, Patricia L. Hall, Wouter F. Visser, Esmeralda Oussoren, Annet M. Bosch, M. Rebecca Heiner-Fokkema, Monique G. M. de Sain-van der Velden   +8 more
doaj   +1 more source

Dihydrolipoamide dehydrogenase deficiency in two unrelated Tunisian children

BMC Pediatrics
Background Dihydrolipoamide dehydrogenase deficiency (DLDD) (OMIM# 246,900) is an extremely rare inherited metabolic disorder causing neurological and/or liver impairment.
Hajer Aloulou, Fatma Charfi, Rim Charfi, Amel Ben Chehida, Hela Boudabbous, Imen Chabchoub, Elise Lebigot, Thouraya Kammoun, Ines Maaloul   +8 more
doaj   +1 more source

Distribution of Recessive Genetic Defect Carriers in Holstein Friesian Cattle: A Polish Perspective

Animals
Genetic disorders are caused by a hereditary change in the structure of DNA that may hurt the health and life of animals. Several recessive haplotypes and a few causative mutations are known in Holstein Friesian cattle: CDH (Holstein cholesterol ...
Marta Gozdek, Sebastian Mucha, Adam Prostek, Dariusz Kamola, Tomasz Sadkowski   +4 more
doaj   +1 more source

A Large PROP1 Gene Deletion in a Turkish Pedigree

Case Reports in Endocrinology, 2018
Pituitary-specific paired-like homeodomain transcription factor, PROP1, is associated with multiple pituitary hormone deficiency. Alteration of the gene encoding the PROP1 may affect somatotropes, thyrotropes, and lactotropes, as well as gonadotropes and
Suheyla Gorar, Doga Turkkahraman, Kanay Yararbas   +2 more
doaj   +1 more source

Genetic Screening of Deficiency of Uridine Monophosphate Synthase (Dumps), Bovine Citrullinaemia (BC) and Factor Xi Deficiency (Fxid) in Hardhenu, Sahiwal and Hariana Bulls

International Journal of Bio-Resource and Stress Management, 2020
Genetic disorder is an inborn genetic abnormalities in animals that is due to mutation in genes which are quite rare and recessive in nature. Propagation of mutated alleles constitute a danger whose negative effect often become evident only after ...
Ankit Magotra, C. S. Patil, B. S. Malik, Asha Rani Garg   +3 more
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MRI findings of hypomyelination in adenylosuccinate lyase deficiency

Radiology Case Reports, 2019
Adenylosuccinate lyase deficiency is a rare genetic disorder with few reported cases in the United States. Magnetic resonance imaging findings in the brain include hypomyelination and low generalized parenchymal volume.
Samar Kayfan, BA, Rana M. Yazdani, BS, Samantha Castillo, MD, Kevin Wong, DO, Jeffrey H. Miller, MD, Cory M. Pfeifer, MD   +5 more
doaj   +1 more source