There are two main types of protein C mutations that lead to protein C deficiency: Type I: Quantitative defects of protein C ( ... and protein C deficiency has been linked to over 160 mutations to date. Therefore, DNA testing for protein C deficiency is ... Patients with Protein C deficiency are at an increased risk of developing skin necrosis while on warfarin. Protein C has a ... a protein C antigen assay can be considered to determine the deficiency subtype (Type I or Type II). In type I deficiencies, ...

"Protein S Deficiency. Learn about Protein S Deficiency , Patient". Patient. Retrieved 2016-10-16. "Protein S Deficiency: ... decreased free protein S levels (normal total protein S levels) In terms of treatment for protein S deficiency the following ... In regards to the mechanism of protein S deficiency, Protein S is made in liver cells and the Endothelium. Protein S is a ... "Protein S Deficiency". Cleveland Clinic. Retrieved 7 February 2023. "Congenital protein C or S deficiency: MedlinePlus Medical ...

... and the C-terminal sterol carrier protein 2 (SDR). The DBP protein (79kDa) also known as "multifunctional protein 2", " ... D-Bifunctional protein deficiency is an autosomal recessive peroxisomal fatty acid oxidation disorder. Peroxisomal disorders ... Möller G, van Grunsven EG, Wanders RJ, Adamski J (January 2001). "Molecular basis of D-bifunctional protein deficiency". Mol. ... Buoni S, Zannolli R, Waterham H, Wanders R, Fois A (January 2007). "D-bifunctional protein deficiency associated with drug ...

... (MTP deficiency or MTPD) is an autosomal recessive fatty acid oxidation disorder ... Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, trifunctional protein ... protein deficiency at Wikimedia Commons Scholia has a topic profile for Mitochondrial trifunctional protein deficiency. ( ... "Orphanet: Mitochondrial trifunctional protein deficiency". www.orpha.net. Retrieved 2016-11-12. Solish JO, Singh RH (2002). " ...

CREB-binding protein, also known as CREBBP or CBP, is a protein that is encoded by the CREBBP gene in humans. The CREB protein ... Proteins RbAp48 is a key player in the assembly of nucleosomes. RbAp48 protein is a subunit of the chromatin-assembly factor-1 ... RbAp48 protein is also found in numerous other protein complexes for regulation of chromatin structure. Studies show that ... Zhang, Q.; Vo, N.; Goodman, R. H. (2000). "Histone Binding Protein RbAp48 Interacts with a Complex of CREB Binding Protein and ...

... is a rare genetic condition caused by the absence of LPS-responsive beige- ... The LBRA gene is located on the long arm of chromosome 4 (4q31.3).[citation needed] LBRA protein interacts with the protein ... The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J Allergy Clin Immunol 137(1):223-230 ... Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet 90: 986-1001 ...

Protein deficiency (not certain): A shortage of proteins involved in biotin homeostasis can cause biotin deficiency. The main ... Biotinidase deficiency Holocarboxylase synthetase deficiency Multiple carboxylase deficiency Durance TD (1991). "Residual Avid ... Velázquez A (1997). "Biotin deficiency in protein-energy malnutrition: implications for nutritional homeostasis and ... ISBN 978-0-07-913035-8. GeneReviews/NCBI/NIH/UW entry on Biotinidase deficiency OMIM entries on Biotinidasa deficiency ( ...

July 2017). "CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis". The New England Journal of Medicine. 377 ... March 2019). "Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency ... CD55 deficiency, also called DAF deficiency or CHAPLE syndrome, is a rare genetic disorder of the immune system. CHAPLE stands ... The protein CD55 (also called decay-accelerating factor) helps to regulate the complement cascade, part of the innate immune ...

Nitrogen fixation Protein deficiency "Compost Fundamentals: Compost Needs - Carbon Nitrogen Relationships". Archived from the ... Nitrogen deficiency is a deficiency of nitrogen in plants. This can occur when organic matter with high carbon content, such as ... Flowering, fruitings, protein and starch contents are reduced. Reduction in protein results in stunted growth and dormant ... Nevertheless, plants are reported to show nitrogen deficiency symptoms at different parts. For example, Nitrogen deficiency of ...

G. J. Jha; M. G. Deo & V. Ramalingaswami (December 1968). "Bone growth in protein deficiency. A study in rhesus monkeys". Am J ... G. J. Jha; M. G. Deo & V. Ramalingaswami (December 1968). "Bone growth in protein deficiency. A study in rhesus monkeys". Am J ... Deo MG, Sood SK, Ramalingaswami V (1965). "Experimental Protein Deficiency". Arch. Pathol. 80: 14-23. V. Ramalingaswami; T. A. ... Deo MG, Sood SK, Ramalingaswami V (1965). Experimental Protein Deficiency. pp. 14-23. ISBN 9780323153171. {{cite book}}: , ...

1989). "Familial protein S deficiency with a variant protein S molecule in plasma and platelets". Blood. 74 (1): 213-21. doi: ... Protein S is partly homologous to other vitamin K-dependent plasma coagulation proteins, such as protein C and factors VII, IX ... Dahlbäck B (1991). "Protein S and C4b-binding protein: components involved in the regulation of the protein C anticoagulant ... protein S is encoded by the PROS1 gene. Protein S plays a role in coagulation. Protein S is named for Seattle, Washington, ...

Models for protein deficiency. American Journal of Clinical Nutrition (1978). "Autoregulatory Homeostatic Nature of Energy ... "Size and Nature of the Protein Gap", Nutrition Review (1970). "The Protein Problem - Its Size and Nature", Journal of the Royal ... He also developed methods for measuring the size and nature of the protein gap. His other major contributions included applying ... paying attention to intra-individual variability that was found to be more than the inter-individual variability in protein or ...

Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C (1981). "Deficiency of protein C in congenital thrombotic disease". J. ... Shahidi, Nasrollah T.; Diamond, Louis K; Shwachman, Harry (October 1961). "Anemia associated with protein deficiency". The ... February 2009). "Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in ... "Folate-deficiency anemia". National Center for Biotechnology Information. U.S. National Library of Medicine. 31 January 2010. ...

Manya H, Akasaka-Manya K, Endo T (July 2010). "Klotho protein deficiency and aging". Geriatrics & Gerontology International. 10 ... Vitamin D deficiency is found worldwide in the elderly and remains common in children and adults. Deficiency results in ... where it is bound to an α-globulin carrier protein named the vitamin D-binding protein. Calcifediol is transported to the ... a review of the roles of phospholipase A2 activating protein and Ca(2+)/calmodulin-dependent protein kinase II". The Journal of ...

During the signaling process, p14 protein will recruit the MP1 protein to the endosomal membrane, and the MP1 protein will then ... Research has shown p14 adaptor protein is crucial for the proper localization of MP1 protein, a scaffold protein important for ... This will affect the proliferation of neutrophils, explaining the neutropenia observed in p14 deficiency patients. P14 protein ... which will decrease the translation of p14 protein, leading to p14 deficiency. Further studies can be conducted for a more ...

"Pyruvate dehydrogenase E3 binding protein (protein X) deficiency". Developmental Medicine and Child Neurology. 48 (9): 756-60. ... E3 binding protein also known as pyruvate dehydrogenase protein X component, mitochondrial is a protein that in humans is ... "Pyruvate dehydrogenase E3 binding protein (protein X) deficiency". Developmental Medicine and Child Neurology. 48 (9): 756-60. ... The protein encoded by the human PDHX gene, also known as E3 binding protein (E3BP), is part of the pyruvate dehydrogenase ...

Protein energy malnutrition is often seen in VAD; suppressed synthesis of retinol binding protein (RBP) due to protein ... "WHO Vitamin A deficiency , Micronutrient deficiencies". Archived from the original on 2019-08-16. Retrieved 2008-03-03. Latham ... Xerophthalmia, keratomalacia, and complete blindness can follow if the deficiency is more severe. Vitamin A deficiency is the ... Other causes of vitamin A deficiency are inadequate intake, fat malabsorption, or liver disorders. Deficiency impairs immunity ...

... also caused by a deficiency of Vitamin D); and kwashiorkor (caused by severe protein deficiency)." (See Mintz, Steven. " ... caused by a niacin deficiency); tetany (caused by deficiencies of calcium, magnesium, and Vitamin D); rickets ( ... Common conditions among enslaved populations included: beriberi (caused by a deficiency of thiamine); pellagra ( ...

"Poor Lands Do Little on Protein Deficiency". The New York Times - via NYTimes.com.{{cite news}}: CS1 maint: multiple names: ... with the aim of reducing iron deficiency anemia without requiring changes in dietary practices. When famine struck India in ...

Smith DB, Ens GE (March 1987). "Protein C deficiency: a cause of amaurosis fugax?". J. Neurol. Neurosurg. Psychiatry. 50 (3): ... Periarteritis nodosa Eosinophilic vasculitis Hyperviscosity syndrome Polycythemia Hypercoagulability Protein C deficiency ...

A deficiency of this protein causes Salla disease. and Infantile Sialic Acid Storage Disease (ISSD). The gene for HP59 contains ... Member 5, also known as SLC17A5 or sialin is a lysosomal membrane sialic acid transport protein which in humans is encoded by ... Sialin, also known as H(+)/nitrate cotransporter and H(+)/sialic acid cotransporter, is a protein which in humans is encoded by ... 2002). "Identification of a novel membrane protein, HP59, with therapeutic potential as a target of tumor angiogenesis". Clin. ...

Thomson, Datin Lady; Ruiz, Elva; Bakar, Mangisi (September 1964). "Vitamin A and protein deficiency in Malayan children". ... Thomson, F. Adam (March 1949). "Dietary deficiencies in children in the island of Viti Levu, Fiji". Transactions of the Royal ... ASEAN sub-committee on protein. "Senarai Penuh Penerima Darjah Kebesaran, Bintang dan Pingat Persekutuan Tahun 1958" (PDF). " ...

"CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis". New England Journal of Medicine. 377 (1): 52-61. doi: ... "Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency". Journal of ... His lab's 2017 identification of CD55 deficiency (which they named CHAPLE disease) led to the discovery of a safe and highly ... Wan, Fengyi; Lenardo, Michael J. (2009-10-01). "Specification of DNA Binding Activity of NF-κB Proteins". Cold Spring Harbor ...

Overactivity of MACPF proteins can also cause disease. Most notably, deficiency of the MAC inhibitor CD59 results in an ... Protein families, Membrane proteins, Transmembrane proteins, Transmembrane transporters, Transport proteins, Integral membrane ... Deficiency of either protein can result in human disease. Structural studies reveal that MACPF domains are related to ... Other proteins that bind to the MAC include C8γ. This protein belongs to the lipocalin family and interacts with C8α. The ...

Hepburn's limbs began to swell with protein deficiency oedema. Finally, on 7 November, help arrived with the arrival of three ...

Poley, J. R.; Bhatia, M.; Welsh, J. D. (1978). "Disaccharidase deficiency in infants with cow's milk protein intolerance. ... Neale, G (1971). "Disaccharidase deficiencies". J Clin Pathol Suppl (R Coll Pathol). 5: 22-28. doi:10.1136/jcp.s3-5.1.22. PMC ... Laws, J. W.; Spencer, J.; Neale, G. (1967). "Radiology in the diagnosis of disaccharidase deficiency". The British Journal of ... Laws, J. W.; Neale, G. (1966). "Radiological diagnosis of disaccharidase deficiency". Lancet. 2 (7455): 139-143. doi:10.1016/ ...

Deficiency of this protein is associated with Hermansky-Pudlak Syndrome . Also this gene has been associated with tumor ... protein that complexes with integrins and other TM4SF proteins". The Journal of Biological Chemistry. 272 (46): 29181-9. doi: ... The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of ... This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood ...

December 2006). "Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta". N. Engl. J. Med. 355 ... Cartilage associated protein is a protein that in humans is encoded by the CRTAP gene. The protein encoded by this gene is ... The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO ... 1997). "Cartilage associated protein (CASP) is a novel developmentally regulated chick embryo protein". J. Cell Sci. 110. ( Pt ...

March 2005). "Renal effects of Tamm-Horsfall protein (uromodulin) deficiency in mice". American Journal of Physiology. Renal ... When this protein is concentrated at low pH, it forms a gel. Uromodulin represents the most abundant protein in normal human ... Tamm-Horsfall protein)--the most abundant protein in mammalian urine". Biochimica et Biophysica Acta (BBA) - Gene Structure and ... mainly consisting of immunoglobulin light chain known as Bence Jones protein, but often also containing Tamm-Horsfall protein. ...

There are causes for deficiency other than low dietary intake of vitamin A as retinol or carotenes. Adequate dietary protein ... Vitamin A deficiency is common in developing countries, especially in Sub-Saharan Africa and Southeast Asia. Deficiency can ... Vitamin A deficiency is common in developing countries, especially in Sub-Saharan Africa and Southeast Asia. Deficiency can ... Plasma retinol is used as a biomarker to confirm vitamin A deficiency. Breast milk retinol can indicate a deficiency in nursing ...