IMG08 (7)

Choroby związane z procesami zachodzącymi w ER

Pknu	PrMdi	Glycopratrin	CNX/CRT Atanc.
1: Ijm ©f wiplhi u KR eiport 1fading (o (kfndiiioa
Cystk fibrom (Piad ełn/. 1994)	Cynk librom (ruMnrmbranc regulator		CNX. Prokmgcd Atanc.
HcrcdiUr) ęmphytrma(teet#/. 1994. Sęwetal. 1996)	al-Aiililrypaui (non Pi/ varunt»)		CNX. Prolongcd Atanc
IlacdAary lywochromnom (KOhn. 1999)	IIFF.. tataofbinding trana/rmn receptor
Protom (' 4rfkK«y (fot imaga ii ul., 2000)	Protem C		CNXt'R1
lypr 1 kmilrtir) mpotócm»iVttpf et al , 199)) Ti)-SiAi(Kśiri Md Drwiki, 2001)	( omplrmrnt ( 1 inhibitor |ł-l Itrutoaniinid**		CNX
(ungcniul Mk.TMC*tMNiy)uic drfKMncy (Maun rf ul, 19X8)	SocniH’-iv.irrulla>e
('n|kr*Si)|ir rypc II (SimpKiro and lolaacon, 1999)	Bilirubin-U DPglucur nomy hrandera* 1
Polycndocnnopafhy■ 1 lypcńnutkmia (Rc/mk and Fncicf, 2001)	Carboiypepoda* E	♦
Diabctc* mdliun (Bat* ei al. 1998)	Insulin receptor		CNX CRT. Prolongcd Atanc
Laron syndrom? (Am*km et al, 1991)	Grottlh hormonr receptor
llrrcdiiary mykoprrmida* (Nautccf. 1999, Niuwcfera/., 1998)	Mycłopcroiidaac	♦	CNXCRT. Prolongcd Atanc
Pranify h)popamhyTo«ditm (GarfWId and Karaplia, 2001)	Prcproparathyroid hormonc
Onikmaamow abuutin (IlaŁabon et al. 1997; llalahan et al., 2002; Vmi) agamnurth) and Rayakumar, 1996)	Tyrosinaic	♦	CNX. Prelonged Atanr
lik) dnea*(Ithn rf a/. 2000)	ci-D*galacioiłd*»<	4
( uofoniial Urnę QT tyndromc (DcuIhK, 2002; Furulani n al, 1999)	Moltagc galcd potaiuum charmcl (IIFRG)		CNX trarmcnl atanc
Auioaomal dominant rrimi(i« pigmentom (1 rcdcruk eta!., 2001, Saldu n al, 2002. illing nal, 2002)	Rhodoptin	4
1 iptd procmtag deflrkackt
1 amiltal hypcrclwlcsitfmłcmia (Jurgcnwn n al., 2000)	Iow *<kriMlv lipoprolcin receptor
Typc 1 cbytanucroncmia (lłcn-/cev n al. 2002)	Fipoprotcin lipa*		CNX
Ahctalipoprototncmia (Kim and Arvan. 1998)	Mieruomal (riglyccnde trarufer protein
Uw płatnia lipuprotoin (a) lcvcls (Wbite et al., 1999; Bonom al., 1998)	Apołipoprotrin (•)		CNX, Prolonged Atanc