MRAP

Last update 08 May 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

1,496

Literatures (Medical) associated with MRAP

17 Mar 2025·Zhonghua er ke za zhi = Chinese journal of pediatrics

[Familial glucocorticoid deficiency type 2 caused by MRAP gene variation in 2 cases].

Article

Author: Shu, W J ; Li, R ; Liu, T ; Zheng, J ; Li, J C

28 Feb 2025·Reproduction

Defining core signaling pathways for supporting in vitro maintenance of pig extraembryonic endoderm (XEN) cells

Article

Author: Lee, Dong-Kyung ; Choi, Kwang-Hwan ; Ahn, Yelim ; Lee, Seokjong ; Lee, Chang-Kyu ; Oh, Jong-Nam ; Kim, Dong-Wook ; Jeong, Jinsol

Extraembryonic endoderm (XEN) cells can be derived from blastocyst primitive endoderm (PrE), becoming a useful tool for studying mammalian development, including early lineage segregation and embryo patterning. Establishment of stem cells representing the respective lineages in blastocysts has been robustly attempted in domestic animals, especially pigs, to reconstitute embryogenesis in vitro for comparative studies. Therefore, we developed a serum-free culture system for pig XEN cells by dissecting the signals governing the core gene network of the PrE lineage. The FGF, LIF and WNT signaling pathways and B27 supplements are essential for maintaining a rapid proliferation rate in pig XEN cells. These cells recapitulated the molecular features and differentiation capacity of the PrE lineage. Especially, the XEN cells incorporated into normal development, retaining cellular identity and contributing to the PrE lineage when injected into in vitro-produced porcine blastocysts. In addition, species-specific characteristics of pigs were observed, including the involvement of lipid metabolism and NANOG/GATA co-expression in XEN cells. Taken together, our findings can contribute to the expansion of the understanding of developmental biology and its biomedical applications by enabling reproducible and homogeneous porcine XEN cell culture.

01 Feb 2025·Clinical Rheumatology

Association study of the HLA class I system with psoriatic arthritis in Southern Tunisia: a case–control study

Article

Author: Charfi, Aida ; Fourati, Hela ; Maaloul, Mariem ; Gaddour, Lilia ; Hakim, Feiza ; Baklouti, Sofien ; Mahfoudh, Nadia ; Feki, Afef ; Kamoun, Arwa ; Gassara, Zouhour

INTRODUCTION/OBJECTIVESPsoriatic arthritis (PsA) is a chronic inflammatory rheumatism belonging to the spondyloarthritis family. It is a multifactorial disease whose genetic determinism is still poorly understood. It is favored by environmental factors in genetically predisposed individuals. This study aims to investigate the association of HLA-A, HLA-B, and HLA-C alleles with PsA and its various manifestations in patients from Southern Tunisia.PATIENTS AND METHODSA case-control association study was conducted involving 48 PsA patients and 123 controls. HLA-A and HLA-B typing was performed using microlymphocytotoxicity complement-dependent assays, and HLA-C typing was done using polymerase chain reaction-sequence specific primer.RESULTSPositive associations were confirmed for HLA-B27 and -C*06 alleles with PsA in our Southern Tunisian population with a more pronounced association in cases of -C*06 homozygosity. The HLA-B*27-C*02 and HLA-B*50-C*06 haplotypes were significantly more frequent in PsA patients, whereas the HLA-B*35-C*04 haplotype was negatively associated with PsA. Specific HLA alleles were linked to disease manifestations: -C04 with female sex, -B27 with familial spondyloarthritis, and -B17 with sporadic PsA. Cervical spine involvement was associated with -C02, and hip involvement with -B35 and -C02. Uveitis was linked to -C02 and -B27. A negative association was observed between a BASFI score > 4 and the presence of -B45 and -C07.CONCLUSIONThe HLA class I system contributes to PsA susceptibility in the Southern Tunisian population. Key Points • This is the first study exploring the association between HLA class I alleles and psoriatic arthritis in Southern Tunisia. • HLA-B27 and -C06 alleles are strongly associated with PsA, with a more pronounced effect in -C06 homozygosity. • Specific HLA alleles are linked to clinical manifestations: -B27 is associated with familial PsA, -B17 with sporadic PsA, and -B35 with hip involvement. • These findings provide insights into the genetic contribution to PsA pathophysiology in Southern Tunisia and highlight the role of HLA alleles in specific disease features.

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