Notes in ✧ Connective Tissue

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Published 01/14/2024 What is the most abundant protein in the human body?{{c1::Collagen}}
Published 01/14/2024 The function of collagen is to organize and strengthen the {{c1::extracellular matrix}}
Published 01/14/2024 What type of collagen is the most common (90%)? {{c1::Type I}}
Published 01/14/2024 What type of collagen makes up bone, skin, and tendon? {{c1::Type I}}
Published 01/14/2024 What type of collagen makes up cartilage? {{c1::Type II}}
Published 01/14/2024 What type of collagen makes up skin and blood vessels? {{c1::Type III}}
Published 01/14/2024 What type of collagen makes up reticulin fibers?{{c1::Type III}}
Published 01/14/2024 What type of collagen makes up the basement membrane?{{c1::Type IV}}
Published 01/14/2024 The {{c3::vascular}} type of Ehlers-Danlos Syndrome that is caused by a deficiency of type {{c4::III}} collagen can lead to:- the formation and ruptur…
Published 01/14/2024 What type of collagen is decreased in osteogenesis imperfecta type I?{{c1::Type I}}
Published 01/14/2024 What pathology is characterized by a defective type IV collagen? {{c1::Alport syndrome}}
Published 01/14/2024 Type {{c1::IV}} collagen is targeted by autoantibodies in {{c2::Goodpasture}} syndrome
Published 01/14/2024 Collagen is a repeat of a tripeptide following the pattern {{c1::Gly-X-Y}}, made by fibroblasts
Published 01/14/2024 One third of the collagen strand is made of the amino acid {{c1::glycine}}
Published 01/14/2024 In the first step of collagen synthesis, translation of collagen alpha chains forms {{c1::preprocollagen}}
Published 01/14/2024 Collagen Synthesis: After the collagen alpha chains are synthesized, specific residues of the amino acids {{c1::proline}} and {{c1::lysine}} are {{c2:…
Published 01/14/2024 Collagen Synthesis: Hydroxylation of selected prolines and lysines during collagen synthesis requires vitamin {{c1::C}}
Published 01/14/2024 Collagen Synthesis: Following hydroxylation of proline and lysine, there is {{c1::glycosylation}} of pro-α-chain {{c2::hydroxylysine}} residues
Published 01/14/2024 Collagen Synthesis: After hydroxylation and glycosylation, hydrogen and disulfide bonds help form a(n) {{c1::triple helix}} of collagen α chains (proc…
Published 01/14/2024 Collagen Synthesis: After the triple helix is formed, the procollagen is {{c1::exocytosed}} into the extracellular space
Published 01/14/2024 Where in the cell does synthesis, hydroxylation, and glycosylation of preprocollagen occur?{{c1::Rough endoplasmic reticulum}}
Published 01/14/2024 Collagen Synthesis: Once in the extracellular space, cleavage of disulfide-rich terminal regions of procollagen by {{c2::procollagen peptidase}} forms…
Published 01/14/2024 Collagen Synthesis: Staggered tropocollagen molecules are reinforced by covalent {{c1::lysine-hydroxylysine}} {{c2::cross-linkages}} to make collagen …
Published 01/14/2024 Formation of lysine-hydroxylysine cross-linkages (collagen synthesis) requires both {{c1::copper}} and the enzyme {{c1::lysyl oxidase}}
Published 01/14/2024 Where in the cell does the synthesis and formation of tropocollagen and collagen fibrils occur?{{c1::Extracellular space}}
Published 01/14/2024 Which collagen synthesis pathologies are associated with problems with cross-linking?{{c1::Ehlers-Danlos syndrome, Menkes disease::2}}
Published 01/14/2024 Which collagen synthesis pathologies are associated with problems forming the triple helix?{{c1::Osteogenesis imperfecta and Scurvy}}
Published 01/14/2024 What genetic bone disorder is also known as brittle bone disease?{{c1::Osteogenesis imperfecta}}
Published 01/14/2024 Osteogenesis imperfecta is most commonly caused by gene defects in {{c1::COL1A1}} and {{c1::COL1A2}}
Published 01/14/2024 What is the inheritance of osteogenesis imperfecta (most common)? {{c1::Autosomal dominant}}
Published 01/14/2024 Osteogenesis imperfecta may be confused with {{c1::child abuse}}
Published 01/14/2024 Osteogenesis imperfecta is characterized by multiple recurrent {{c1::fractures}} with minimal trauma
Published 01/14/2024 {{c2::Osteogenesis imperfecta}} may present with {{c1::blue sclerae}} due to translucent connective tissue over choroidal veins
Published 01/14/2024 Osteogenesis imperfecta may present with {{c1::hearing loss}} due to abnormal ossicles
Published 01/14/2024 Some forms of osteogenesis imperfecta have tooth abnormalities, including opalescent teeth that wear easily due to lack of {{c1::dentin}}
Published 01/14/2024 The {{c1::classical}} type of Ehlers-Danlos syndrome (joint and skin symptoms) is caused by a mutation in type {{c2::V}} collagen
Published 01/14/2024 What type of Ehlers-Danlos syndrome is the most common type?{{c1::Hypermobility type (joint instability)}}
Published 01/14/2024 Ehlers-Danlos syndrome is characterized by faulty collagen synthesis causing {{c1::hyperextensible}} skin
Published 01/14/2024 Ehlers-Danlos syndrome is characterized by faulty collagen synthesis causing {{c1::hypermobile}} joints
Published 01/14/2024 Ehlers-Danlos syndrome may present with easy bruising and a tendency to {{c1::bleed}}
Published 01/14/2024 The classical and vascular forms of Ehlers-Danlos syndrome are inherited in a(n) {{c1::autosomal dominant}} manner
Published 01/14/2024 What is the inheritance of Menkes disease? {{c1::X-linked recessive}}
Published 01/14/2024 {{c1::Menkes}} disease is caused by impaired {{c2::copper}} absorption and transport due to a defect in the ATP7A gene
Published 01/14/2024 What gene is defective in Menkes disease? {{c1::ATP7A}}
Published 01/14/2024 The defective Menkes protein (Menkes disease) leads to decreased activity of the enzyme {{c1::lysyl oxidase}}
Published 01/14/2024 {{c2::Menkes}} disease results in {{c1::brittle, "kinky"}} hair, growth retardation, and hypotonia
Published 01/14/2024 {{c1::Elastin}} is a stretchy protein within skin, lungs, large arteries, elastic ligaments, vocal cords, and ligamentum flava
Published 01/14/2024 Elastin is rich in non-hydroxylated {{c1::proline}}, {{c1::glycine}}, and {{c1::lysine}} residues (amino acids)
Published 01/14/2024 Elastin is broken down by the enzyme {{c2::elastase}}, which is normally inhibited by {{c1::α1-antitrypsin}}
Published 01/14/2024 Elastin is tropoelastin with {{c1::fibrillin}} scaffolding
Published 01/14/2024 What gives elastin its elastic "rubber-like" properties?{{c1::Cross-linking}}
Published 01/14/2024 Where in the cell does cross-linking of elastin take place? {{c1::Extracellular space}}
Published 01/14/2024 {{c1::Marfan}} syndrome is caused by a defect in {{c2::fibrillin}}, a glycoprotein that forms a sheath around {{c3::elastin}}
Published 01/14/2024 {{c1::Emphysema}} may be caused by a(n) {{c2::α1-antitrypsin}} deficiency, resulting in excess elastase activity in alveoli
Published 01/14/2024 {{c1::Wrinkles}} of aging are due to decreased {{c2::collagen}} and elastin production
Published 01/14/2024 {{c1::Marfan}} syndrome is due to a(n) {{c2::FBN1}} gene mutation on chromosome {{c3::15}}
Published 01/14/2024 What protein is defective in Marfan syndrome?{{c1::Fibrillin (scaffold for elastin)}}
Published 01/14/2024 What pathology is associated with long, tapering fingers and toes (arachnodactyly) and subluxation of lenses?{{c1::Marfan syndrome}}
Published 01/14/2024 Marfan syndrome typically presents with subluxation of the lenses {{c1::upward::direction}} and {{c1::temporally::direction}} 
Published 01/14/2024 Marfan syndrome is associated with a floppy {{c1::mitral}} valve
Published 01/14/2024 What is the mode of inheritance of Marfan syndrome?{{c1::Autosomal dominant}}
Published 01/14/2024 In regards to wrinkles of aging, there is {{c1::decreased}} synthesis of collagen fibrils and {{c2::increased}} crosslinking of collagen
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