Results 31 to 40 of about 1,074,296 (345)

A mutant of Neurospora crassa deficient in cytochrome c heme lyase activity cannot import cytochrome c into mitochondria [PDF]

, 1988
The nuclear cyt-2-1 mutant of Neurospora crassa is characterized by a gross deficiency of cytochrome c (Bertrand, H., and Collins, R. A. (1978) Mol. Gen. Genet. 166, 1-13).
Drygas, Mariola E., Kwong, Patrick L., Nargang, Frank E., Neupert, Walter, Nicholson, Donald W.   +4 more
core   +1 more source

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency::a systematic review [PDF]

, 2019
Background: Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies are rare fatty acid β-oxidation disorders. Without dietary management the conditions are life-threatening. We conducted a systematic
Clarke, Aileen, Connock, Martin, Fraser, Hannah, Geppert, Julia, Johnson, Rebecca, Johnson, Samantha, Stinton, Christopher, Taylor-Phillips, Sian   +7 more
core   +2 more sources

Protein S and pregnancy: Report of a case [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2002
Protein S is a cofactor of protein S which lowers the activat- ed factors VIII and V. Pregnancy reduces the level of protein S to 40-50% of normal levels but it is not clear whether the lowered protein S levels increase the risk of developing thrombo ...
Dunjić Radica, Elezović Ivo V., Rakić Snežana, Miković Željko, Lončar-Stevanović Helena   +4 more
doaj   +1 more source

Nuclear localised more sulphur accumulation1 epigenetically regulates sulphur homeostasis in Arabidopsis thaliana [PDF]

, 2016
Sulphur (S) is an essential element for all living organisms. The uptake, assimilation and metabolism of S in plants are well studied. However, the regulation of S homeostasis remains largely unknown.
A Becker, A Goyer, A Maruyama-Nakashita, A Maruyama-Nakashita, A Maruyama-Nakashita, AD Hanson, AD Hanson, AF Pendle, AM Catanzariti, Anna Koprivova, B Lahner, B Shane, BR Lee, Brian Dilkes, CG Kawashima, CG Kawashima, D Gorlich, D Mao, D Secco, Dai-Yin Chao, David E Salt, DY Chao, Francisco J. Sandoval, G Liang, G Tsakraklides, GZ Luo, H Bauwe, H Rouached, H Takahashi, H Takahashi, H Tian, H Zhang, Hermann Bauwe, HM Hubberten, HR Zhou, JA Law, John Danku, K Arnold, K Burstenbinder, L Schirch, L Yong-Villalobos, L Yong-Villalobos, LM Voll, M Barberon, M Bielecka, M Eisenhut, M Sauter, Markus Wirtz, MW Jones-Rhoades, MY Hirai, N Engel, N Guex, N Terry, N Yoshimoto, N Yoshimoto, PP Sahu, PS Hosmani, RT Taylor, Rüdiger Hell, S Alfadhli, S Kosugi, S Lee, S Li, S Liu, Sanja Roje, SG Mugford, SJ Clough, Stanislav Kopriva, Steffen Müller, T Fujiwara, T Kamiya, T Leustek, T Matsushita, TF Fu, Thomas Leustek, TT Calikowski, V Chinnusamy, V Schirch, W Huang da, W Wen, WA Loenen, X Zhang, Xin-Yuan Huang, XY Huang, XY Huang, Y Hacham, Y Wan, Y Xi, Y Zhang, Y Zhang, Z Wei   +90 more
core   +3 more sources

Alpha-1 antitrypsin deficiency [PDF]

, 2001
α-1 antitrypsin is synthesised in the liver and protects lung alveolar tissues from destruction by neutrophil elastase. α-1 antitrypsin deficiency is a common autosomal recessive condition (1:1600 to 1:1800) in which liver disease results from retention ...
Primhak, R.A., Tanner, M.S.
core   +2 more sources

Protein C and S deficiency presenting as acute abdomen

Medical Journal of Dr. D.Y. Patil University, 2015
Protein C and S are essential in limiting the activation of coagulation in vivo. Their deficiencies predispose the patient to thrombophilia and leads to thrombosis, often at unusual sites. Arterial thrombosis is rarely observed.
Amit A Bharadiya, Swati C Aundhakar, Nikhil G Panpalia, Jyotsna B Jaju   +3 more
doaj   +1 more source

DNA polymerase B deficiency is linked to aggressive breast cancer: a comprehensive analysis of gene copy number, mRNA and protein expression in multiple cohorts [PDF]

, 2014
Short arm of chromosome 8 is a hot spot for chromosomal breaks, losses and amplifications in breast cancer. Although such genetic changes may have phenotypic consequences, the identity of candidate gene(s) remains to be clearly defined.
Abayomi, M, Abdel-Fatah, TMA, Agarwal, D, Albarakati, N, Ball, G, Caldas, C, Chan, S, Ellis, IO, Madhusudan, S, Moseley, P, Perry, C, Russell, R   +11 more
core   +1 more source

Pulmonary Embolism Due to Protein S Deficiency in Pregnancy

Taiwanese Journal of Obstetrics & Gynecology, 2005
Objective: Inherited thrombophilia is an uncommon disease that may cause recurrent thrombosis and may complicate pregnancy. A patient with protein S deficiency suffered antepartum deep venous thrombosis (DVT) and antepartum pulmonary embolism (PE) in the
Pek-Ha Mak, Ming-Kwang Shyu, Chien-Nan Lee, Fon-Jou Hsieh   +3 more
doaj   +1 more source

Adiponectin Deficiency Impairs Maternal Metabolic Adaptation to Pregnancy in Mice. [PDF]

, 2017
Hypoadiponectinemia has been widely observed in patients with gestational diabetes mellitus (GDM). To investigate the causal role of hypoadiponectinemia in GDM, adiponectin gene knockout (Adipoq-/- ) and wild-type (WT) mice were crossed to produce ...
Hay, William W, Lee, Samuel, Nguyen, Amanda, Qiao, Liping, Schaack, Jerome, Shao, Jianhua, Wattez, Jean-Sebastien   +6 more
core   +1 more source

Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing

Diagnostics, 2022
The deficiency of natural anticoagulants—antithrombin (AT), protein C (PC), and protein S (PS)—is a highly predisposing factor for thrombosis, which is still underdiagnosed at the genetic level.
Petr Vrtel, Ludek Slavik, Radek Vodicka, Julia Stellmachova, Martin Prochazka, Jana Prochazkova, Jana Ulehlova, Peter Rohon, Tomas Simurda, Jan Stasko, Ivana Martinkova, Radek Vrtel   +11 more
doaj   +1 more source