MRAP

Last update 23 Jan 2025

Basic Info

Synonyms

B27, C21orf61, FALP

+ [5]

Introduction

Modulator of melanocortin receptors (MC1R, MC2R, MC3R, MC4R and MC5R). Acts by increasing ligand-sensitivity of melanocortin receptors and enhancing generation of cAMP by the receptors. Required both for MC2R trafficking to the cell surface of adrenal cells and for signaling in response to corticotropin (ACTH). May be involved in the intracellular trafficking pathways in adipocyte cells.

100 Clinical Results associated with MRAP

100 Translational Medicine associated with MRAP

0 Patents (Medical) associated with MRAP

1,516

Literatures (Medical) associated with MRAP

01 Jan 2025·Arthritis & Rheumatology

Features of Axial Spondyloarthritis in Two Multicenter Cohorts of Patients with Psoriasis, Uveitis, and Colitis Presenting with Undiagnosed Back Pain

Article

Author: Weber, Ulrich ; Keeling, Stephanie O. ; Rohekar, Sherry ; Aydin, Sibel Zehra ; Yeung, James ; Paschke, Joel ; Lambert, Robert G. ; Zouzina, Olga ; Carmona, Raj ; Masetto, Ariel ; Chan, Jonathan ; Maksymowych, Walter P. ; Dadashova, Rana ; Carapellucci, Amanda ; Reis, Jodie ; Martin, Liam ; Mosher, Dianne ; Wichuk, Stephanie

ObjectiveWe aimed to assess the following: (1) the frequency of axial spondyloarthritis (axSpA) according to extra‐articular presentation and HLA‐B27 status, (2) clinical and imaging features that distinguish axSpA from non‐axSpA, and (3) the impact of magnetic resonance imaging (MRI) on diagnosis and classification of axSpA.MethodsThe Screening for Axial Spondyloarthritis in Psoriasis, Iritis, and Colitis (SASPIC) study enrolled patients in two multicenter cohorts. Consecutive patients with undiagnosed chronic back pain attending dermatology, ophthalmology, and gastroenterology clinics with psoriasis (PsO), acute anterior uveitis (AAU), or inflammatory bowel disease (IBD) were referred to a local rheumatologist with special expertise in axSpA for a structured diagnostic evaluation. The primary outcome was the proportion of patients diagnosed with axSpA by the final global evaluation.ResultsFrequency of axSpA was 46.7%, 61.6%, and 46.8% in patients in SASPIC‐1 (n = 212) and 23.5%, 57.9%, and 23.3% in patients in SASPIC‐2 (n = 151) with PsO, AAU, or IBD, respectively. Among those who were B27 positive, axSpA was diagnosed in 70%, 74.5%, and 66.7% of patients in SASPIC‐1 and in 71.4%, 87.8%, and 55.6% of patients in SASPIC‐2 with PsO, AAU, or IBD, respectively. All musculoskeletal clinical features were nondiscriminatory. MRI was indicative of axSpA in 60% to 80% of patients and MRI in all patients (SASPIC‐2) versus on‐demand (SASPIC‐1) led to 25% fewer diagnoses of axSpA in patients who were HLA‐B27 negative with PsO or IBD. Performance of the Assessment of SpondyloArthritis International Society classification criteria was greater with routine MRI (SASPIC‐2), though sensitivity was lower than previously reported.ConclusionOptimal management of patients presenting with PsO, AAU, IBD, and undiagnosed chronic back pain should include referral to a rheumatologist. Conducting MRI in all patients enhances diagnostic accuracy.

01 Nov 2024·Reumatología Clínica (English Edition)

HLA-B*51:01 in Iranian patients with Behcet uveitis syndrome

Article

Author: Zarei, Mohammad ; Zamani, Mahdi ; Ebrahimiadib, Nazanin ; Hoseini, Zahra ; Salimian, Zahra ; Rad, Fatemeh Rezaei

BACKGROUNDBehcet's disease (BD) is a multisystem disorder prevalent along the historic Silk Road, with Behcet's uveitis (BU) representing a significant complication contributing to disability. Various studies have linked different HLA alleles with BD across diverse populations.METHODSIn this study, we investigated the association between HLA-B51:01/x and HLA-B27/x genotypes with Behcet's uveitis in 50 unrelated Iranian patients diagnosed with Behcet's uveitis, comparing them to a control group of 70 healthy individuals. Our analysis aimed to determine the susceptibility conferred by these alleles and assess their clinical relevance.RESULTSOur findings indicate a notable susceptibility conferred by the HLA-B51:01/x genotype for Behcet's uveitis (P=0.0001). Conversely, the B27/x genotype did not demonstrate significant associations with Behcet's uveitis. Furthermore, we employed prevalence-corrected positive predictive value (PcPPV) calculations to gauge the clinical utility of testing for these alleles within the Iranian Behcet's uveitis patient population. The PcPPV for B27/x genotype testing was determined to be 0.05%, while the PcPPV for B51:01/x genotype testing in the same population was 0.065%. These results suggest that carriers of the B*51:01 allele, when presenting with clinical symptoms, exhibit a heightened risk for Behcet's uveitis compared to the general population.CONCLUSIONIndividuals carrying the B51:01 allele, when symptomatic, face an elevated Behcet's uveitis risk. This insight aids in targeted clinical assessments for at-risk populations.

01 Aug 2024·Clinical Endocrinology

Severe adrenal insufficiency in six neonates with normal newborn screening for CAH

Article

Author: Geckinli, Bilge ; Demir, Senol ; Guran, Tulay ; Ucar, Ahmet ; Ozcabi, Bahar ; Kurt, Ilknur ; Karagozlu, Selen ; Bulus, Derya ; Eser, Metin ; Kahveci, Ahmet ; Ersoy, Aysenur ; Guran, Omer

AbstractBackgroundNewborn screening (NBS) reduces the risk of mortality in congenital adrenal hyperplasia (CAH), mainly due to the salt‐wasting form of 21‐hydroxylase deficiency. There is limited knowledge regarding the results of NBS in non‐CAH primary adrenal insufficiency (non‐CAH PAI).Patients and MethodsClinical and NBS for CAH data of neonates who were diagnosed with non‐CAH PAI between January and December 2022 were examined.ResultsPatients (n = 6, 4 females) were presented with severe hyperpigmentation (n = 6), hypoglycemia (n = 4), hyponatremia (n = 3), hyperkalemia (n = 1), respiratory distress syndrome (n = 1) between 3rd hour to 2 months of life. All had normal NBS results. The median first‐tier 17‐hydroxyprogesterone (17OHP) concentration in NBS for CAH was 0.14 ng/mL (range; 0.05−0.85). Molecular studies revealed biallelic mutations in the MC2R (n = 4; 3 homozygous, 1 compound heterozygous), MRAP (n = 1) and STAR (n = 1) genes. Glucocorticoid with or without mineralocorticoid replacement was initiated once the diagnosis of non‐CAH PAI was established.ConclusionNeonates with non‐CAH PAI have always normal NBS due to persistently low 17OHP, even when these newborn infants are severely symptomatic for adrenal insufficiency. Clinicians should be alert for signs of adrenal insufficiency in neonates, even if the patient has a ‘normal’ screening for CAH, so as not to delay diagnosis and treatment. This fact should be kept in mind particularly in countries where these conditions are more common than elsewhere.

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