검색어: osteogenesis (영어 - 터키어)

==plot==elijah price (samuel l. jackson) is born with type i osteogenesis imperfecta, a rare disease in which bones break easily.
== konu ==elijah price, (samuel l. jackson) kemikleri aşırı kırılgan bir yapıya sahip olup, doğuştan birinci tip cam kemik hastasıdır.

solute carrier family 4, member 1* slc6a4: serotonin transporter* tmc6 and tmc8: transmembrane channel-like 6 and 8 (epidermodysplasia verruciformis)* tp53: tumor suppressor protein p53 (li-fraumeni syndrome), tumor suppressor gene* ush1g: usher syndrome 1g (autosomal recessive)* rai1: retinoic acid induced 1* rara or rar-alpha: retinoic acid receptor alpha (involved in t(15,17) with pml)* rhbdf2: rhomboid family member 2* grb7: growth factor receptor-bound protein 7* several cc chemokines: ccl1, ccl2, ccl3, ccl4, ccl5, ccl7, ccl8, ccl11, ccl13, ccl14, ccl15, ccl16, ccl18, and ccl23==diseases & disorders==the following diseases are related to genes on chromosome 17:* 17q21.31 microdeletion syndrome* alexander disease* andersen-tawil syndrome* birt-hogg-dubé syndrome* bladder cancer* breast cancer* camptomelic dysplasia* canavan disease* cerebroretinal microangiopathy with calcifications and cysts* charcot-marie-tooth disease* charcot-marie-tooth disease, type 1* corticobasal degeneration* cystinosis* depression* ehlers-danlos syndrome* ehlers-danlos syndrome, classical type* epidermodysplasia verruciformis* galactosemia* glycogen storage disease type ii (pompe disease)* hereditary neuropathy with liability to pressure palsies* howel–evans syndrome* li-fraumeni syndrome* maturity onset diabetes of the young type 5* miller-dieker syndrome* multiple synostoses syndrome* neurofibromatosis type i* nonsyndromic deafness* nonsyndromic deafness, autosomal dominant* nonsyndromic deafness, autosomal recessive* osteogenesis imperfecta* osteogenesis imperfecta, type i* osteogenesis imperfecta, type ii* osteogenesis imperfecta, type iii* osteogenesis imperfecta, type iv* potocki-lupski syndrome* proximal symphalangism* smith-magenis syndrome* usher syndrome* very long-chain acyl-coenzyme a dehydrogenase deficiency==references==
== genler ==kromozom 17 üzerinde bulunan genlerden bazıları:* acadvl: açil-koenzim a dehidrogenaz, çok uzun zincir* actg1: aktin, gama 1* aspa: aspartoasilaz (canavan hastalığı)* brca1: göğüs kanseri 1, erken safha* col1a1: kollajen, tip i, alfa 1* erbb: v-erb-b2 eritroblastik lösemi viral onkogen homolog 2* flcn: follikulin* galk1: galaktokinaz 1* gfap: glial fibrilli asidik protein* kcnj2: potasyum içten düzenleyici kanal, altaile j, üye 2* myo15a: miyozin xva* nf1: nörofibromin 1* pmp22: periferal myelin protein 22* shbg: cinsiyet hormonu bağlayıcı globulin* tp53: tümör protein p53 (li-fraumeni sendromu)* ush1g: usher sendromu 1g (otozomal çekinik)* rai1: retinoik asit teşvikleyici 1* raralpha: retenoik asit reseptör alfa* grb7: büyüme faktörü reseptörü bağlı protein 7== hastalıklar ==kromozom 17 üzerinde bulunan genlerle ilgili olan hastalıkların bazıları:* alexander hastalığı* andersen-tawil sendromu* birt-hogg-dubé sendromu* mesane kanseri* göğüs kanseri* canavan hastalığı* charcot-marie-tooth hastalığı* charcot-marie-tooth hastalığı, tip 1* ehlers-danlos sendromu* ehlers-danlos sendromu, arthrochalasia tip* ehlers-danlos sendromu, klasik tip* galaktozemi* basınçlı felce yatkınlık ırsi nöropatisi* li-fraumeni sendromu* olgunlaşmış saldırı diabet genç tip 5* nörofibromatoz tip i* sendromik olmayan sağırlık* sendromik olmayan sağırlık, otozomal baskın* sendromik olmayan sağırlık, otozomal çekinik* osteogenez imperfecta* osteogenez imperfecta, tip i* osteogenez imperfecta, tip ii* osteogenez imperfecta, tip iii* osteogenez imperfecta, tip iv* smith-magenis sendromu* usher sendromu* usher sendromu tip i* çok uzun zincir açil-koenzim a dehidrogenaz eksikliği