By K., Ed. Kitamura

ISBN-10: 3318004952

ISBN-13: 9783318004953

ISBN-10: 3805569564

ISBN-13: 9783805569569

How can genetics be helpful to normal otorhinolaryngologists and their sufferers? This booklet summarizes the latest details on genetic illnesses, together with deafness and head-and-neck melanoma, that's suitable to scientific perform, really on the subject of actual genetic counseling. the 1st a part of the quantity provides a easy and normal evaluate of genetics. up to date info on deafness genes is given and the mouse version for listening to impairment is punctiliously defined. the appliance of molecular research of head-and-neck carcinoma has been one of many primary breakthroughs in knowing the cellphone biology of the carcinoma. chapters are dedicated to the dialogue of tumor suppressor genes and oncogenes. This e-book is extremely advised when you consider that genetics, relatively molecular genetics, remains to be an surprising topic to otorhinolaryngologists. but there's a consistent must be alert to the potential for diagnosing hereditary problems.

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The 3(IV), 4(IV) and 5(IV) chains are the main constituents of the adult cochlear BM. Two protomers associate in a head-to-head (NC1-to-NC1) fashion to form a dimer. Two dimers cross-link in tail-to-tail (7S-to-7S) to form a tetramer, after which tetramers cross-link with each other to produce the characteristic ‘chicken-wire’ scaffolding network. Alport Syndrome 23 Fig. 2. Chromosomal localization and structures of type IV collagen genes, and tissue localization of the gene products. The genes encoding the six type IV collagen chains are located in pairs in a head-to-head fashion on three different chromosomes.

Contrib Nephrol. Basel, Karger, 1997, vol 122, pp 116–123. Piccini M, Vitelli F, Bruttini M, Pober BR, Jonsson JJ, Villanova M, Zollo M, Borsani G, Ballabio A, Renieri A: FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptosis, and mental retardation. Genomics 1998;47:350–358. Mochizuki T, Lemminks HH, Mariyama M, Antignac C, Gubler M-C, Pirson Y, Verellen-Dumoulin C, Chan B, Schro¨der CH, Smeets HJ, Reeders ST: Identification of mutations in the 3(IV) and 4(IV) collagen genes in autosomal recessive Alport syndrome.

Lees GE, Helman G, Homco LD, Millichamp NJ, Camacho ZT, Templeton J, Thorner PS, Baumal R: Autosomal recessive hereditary nephritis in English cocker spaniel (ESC) dogs. J Am Soc Nephrol 1995;6:700A. Tachibana 30 59 60 61 62 63 64 65 66 67 68 69 70 Hood JC, Savige J, Hendtlass A, Kleppel MM, Huxtable CR, Robinson WF: Bull terrier hereditary nephritis: A model for autosomal dominant Alport syndrome. Kidney Int 1975;47:758–765. Zwacka R, Reuter A, Pfaff E, Moll J, Gorgas K, Karasawa M, Weiher H: The glomerulosclerosis gene Mpv17 encodes a peroxisomal protein producing reactive oxygen species.

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Genetics In Otorhinolaryngology (Advances in Otorhinolaryngology, Vol. 56) by K., Ed. Kitamura

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