Biomedical Engineering Reference
In-Depth Information
147. Andrieux J, Audrezet MP, Frachon I et al (2002) Quantification of CFTR splice variants in
adults with disseminated bronchiectasis, using the TaqMan fluorogenic detection system.
Clin Genet 62:60-67
148. Casals T, De-Gracia J, Gallego M et al (2004) Bronchiectasis in adult patients: an expression
of heterozygosity for CFTR gene mutations. Clin Genet 65:490-495
149. Chillon M, Casals T, Mercier B et al (1995) Mutations in the cystic fibrosis gene in patients
with congenital absence of the vas deferens. N Engl J Med 332:1475-1480
150. Daudin M, Bieth E, Bujan L et al (2000) Congenital bilateral absence of the vas deferens:
clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance
regulator gene mutations, and implications for genetic counseling. Fertil Steril 74:
1164-1174
151. Kaplan E, Shwachman H, Perlmutter AD et al (1968) Reproductive failure in males with
cystic fibrosis. N Engl J Med 279:65-69
152. Augarten A, Yahav Y, Kerem BS et al (1994) Congenital bilateral absence of vas deferens in
the absence of cystic fibrosis. Lancet 344:1473-1474
153. Sun H, Tsunenari T, Yau KW et al (2002) The vitelliform macular dystrophy protein defines
a new family of chloride channels. Proc Natl Acad Sci USA 99:4008-4013
154. Petrukhin K, Koisti MJ, Bakall B et al (1998) Identification of the gene responsible for Best
macular dystrophy. Nat Genet 19:241-247
155. Marquardt A, Stohr H, Passmore LA et al (1998) Mutations in a novel gene, VMD2,
encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystro-
phy (Best's disease). Hum Mol Genet 7:1517-1525
156. Allikmets R, Seddon JM, Bernstein PS et al (1999) Evaluation of the Best disease gene in
patients with age-related macular degeneration and other maculopathies. Hum Genet 104:
449-453
157. Zhang JJ, Jacob TJ (1994) ATP-activated chloride channel inhibited by an antibody to
P glycoprotein. Am J Physiol 267:C1095-C1102
158. Zhang JJ, Jacob TJ (1996) Volume regulation in the bovine lens and cataract. The involve-
ment of chloride channels. J Clin Invest 97:971-978
159. Zhang JJ, Jacob TJ, Valverde MA et al (1994) Tamoxifen blocks chloride channels.
A possible mechanism for cataract formation. J Clin Invest 94:1690-1697
160. Young MA, Tunstall MJ, Kistler J et al (2000) Blocking chloride channels in the rat lens:
localized changes in tissue hydration support the existence of a circulating chloride flux.
Invest Ophthalmol Visual Sci 41:3049-3055
161. Cossette P, Liu L, Brisebois K et al (2002) Mutation of GABRA1 in an autosomal dominant
form of juvenile myoclonic epilepsy. Nat Genet 31:184-189
162. Harkin LA, Bowser DN, Dibbens LM et al (2002) Truncation of the GABA(A)-receptor
gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum
Genet 70:530-536
163. Lappalainen J, Krupitsky E, Remizov M et al (2005) Association between alcoholism and
gamma-amino butyric acid alpha2 receptor subtype in a Russian population, Alcohol. Clin
Exp Res 29:493-498
164. Edenberg HJ, Dick DM, Xuei X et al (2004) Variations in GABRA2, encoding the alpha2
subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain
oscillations. Am J Hum Genet 74:705-714
165. Buhr A, Bianchi MT, Baur R et al (2002) Functional characterization of the new human
GABA(A) receptor mutation beta3(R192H). Hum Genet 111:154-160
166. Greger R (1983) Chloride channel blockers. Methods Enzymol 191:793-810
167. Bretag AH (1987) Muscle chloride channels. Physiol Rev 67:618-724
168. Miller C, White MM (1984) Dimeric structure of single chloride channels from
Torpedo
Electroplax. Proct Natl Acad Sci USA 81:2772-2775
169. Cai Z, Scott-Ward TS, Li H et al (2004) Strategies to investigate the mechanism of action of
CFTR modulators. J Cyst Fibros 3:141-147
