CalbindinD28k, NM_031984.1, UPL Probe #128 (Roche 04693647001); Parvalbumin, NM_022499.1, UPL Probe #49 (Roche 04688104001); Grin1 NM_001270602.1 UPL Probe #69 (Roche 04688686001); Grin2a NM_012573.3 UPL Probe #66 (Roche 04688651001); Grin2b NM_012574.1 UPL Probe # 29 (Roche 04687612001); Grin2c NM_012575.3 UPL Probe #106 (Roche 04692250001); Grin2d NM_022797.1 UPL Probe #4 (Roche 04685016001); Grin3a NM_001198583.1 UPL Probe #105 (Roche 04692241001) CACNA1C, NM_012517.2, UPL Probe #73 (Roche 04688961001); CACNA1D
, NM_017298.1, UPL Probe #82 (Roche 04689054001).
A few important genes included in this list are OXT, GRIN1, CHAT, and CACNA1D
which are potential regulators of neurophysiological processes and have a high degree of implication in psychological disorders.
Expression of Cacna1d
(3-fold), Cacna1g, Cacna1h (4-fold), Cacna2d1, Cacna2d3, and Cacng4 (3-fold) were downregulated in GK compared to control SAN.
Bidirectional Sanger sequencing was performed for targeted mutation detection in the KCNJ5, ATP1A1, ATP2B3, CACNA1D
, CACNA1H, and PRKACA genes using DNA extracted from the tumor tissues of the 22 A/CPA patients.
k) Mutations in CACNA1D
and CHI (Single Case Report)
3 regulates insulin release and polymorphisms in CACNA1D
associate with type 2 diabetes.
This work then led to the discovery of various plasma membrane channel mutations [sodium/potassium-transporting ATPase subunit alpha-1 (ATP1A1), plasma membrane calcium-transporting ATPase 3 (ATP2B3), and voltage-dependent calcium channel type L alpha 1D subunit (CACNA1D
)] in other APAs.
During the past 2 years, considerable interest has been generated by the discovery of sporadic mutations in potassium channels (KCNJ5), calcium channels (CACNA1D
), and ATPases (ATP1A1 and ATP2B3; Figure 2, C).
Loss of Cav1.3 (CACNA1D
) function in a human channelopathy with bradycardia and congenital deafness.
hydronephrosis Imipramine ADRA18, ADRA1D Renal nephritis Imipramine TP53, NOS1, CTNS, ALB, NFKB2, VDR, PDE4D, PPP3CA, ACE Heart failure lmipramine EPO, NOS1, ATP1A3, CACNA1D
, ACCN3, KCNG2, PDE4D, SLC9A1, TTN, ADRB3, KCNJ11, ADRA1D.
Mendelian forms of hypertension and germline mutations causing early-onset hypertension have highlighted biological pathways that involve renal salt handling (WNK1, WNK4, KLHL3, and CUL3), ion transport (CACNA1D
, CACNA1H, KCNJ5, SCNN1B, and SCNN1G), corticosteroidogenesis (CYP11B2, HSD11B2, NR3C2, CYP11B1, and CYP17A1), and vascular tone (PDE3A) to regulate blood [41-44].
For example, clinical studies have demonstrated overexpression of CACNA1D
([Ca.sub.v]1.3) (L type), CACNA1A ([Ca.sub.v]2.1) (P/Q type), and CACNA1G ([Ca.sub.v]3.1) (T type) in lung cancer, and overexpression of CACNA1A ([Ca.sub.v]2.1) was associated with poor prognosis .