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Maturity-onset diabetes of the young – Genetics Home Reference
Maturity-onset diabetes of the young (MODY) is a team of various problems characterised by abnormally large blood sugar stages. These types of diabetes normally start off in advance of age 30, despite the fact that they can come about later in lifetime. In MODY, elevated blood sugar arises from lowered […]
Snijders Blok-Campeau syndrome – Genetics Home Reference
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Keen M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson […]
Nonketotic hyperglycinemia – Genetics Home Reference
Aliefendioğlu D, Tana Aslan Ay, Coşkun T, Dursun A, Cakmak FN, Kesimer M. Transient nonketotic hyperglycinemia: two circumstance experiences and literature review. Pediatr Neurol. 2003 Feb28(2):151-five. Evaluate. Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update. J Inherit Metab Dis. 200427(three):417-22. Evaluate. Applegarth DA, Toone JR. Glycine […]
Constitutional mismatch repair deficiency syndrome – Genetics Home Reference
Constitutional mismatch fix deficiency (CMMRD) syndrome is a exceptional problem that tremendously will increase the hazard of building one or far more kinds of most cancers in youngsters and youthful grownups. The cancers that most frequently take place in CMMRD syndrome are cancers of the (massive intestine) and rectum (collectively […]
Saul-Wilson syndrome – Genetics Home Reference
Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K Undiagnosed Health conditions Network Scottish Genome […]
STAC3 disorder – Genetics Home Reference
Campiglio M, Flucher BE. STAC3 stably interacts by means of its C1 area with Ca(V)1.1 in skeletal muscle mass triads. Sci Rep. 2017 Jan 237:41003. doi: ten.1038/srep41003. Campiglio M, Kaplan MM, Flucher BE. STAC3 incorporation into skeletal muscle mass triads happens unbiased of the dihydropyridine receptor. J Cell Physiol. 2018 […]
ADPEAF – Genetics Home Reference
Autosomal dominant partial epilepsy with auditory functions (ADPEAF) is an uncommon type of epilepsy that operates in people. This problem brings about seizures normally characterized by seem-relevant (auditory) indications these kinds of as buzzing, humming, or ringing. Some people practical experience much more sophisticated appears for the duration of a […]