{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n LRMDA appears to be a multifunctional gene with roles in melanocyte differentiation and pigmentation, metabolic regulation, and even cancer biology. On one hand, mutations in LRMDA have been reported as causative in forms of non‐syndromic oculocutaneous albinism, where disruptions in its function contribute to the hypopigmentation of the skin, hair, and eyes observed in affected individuals (see"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "and."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " These findings support a role for LRMDA in proper melanocyte differentiation and pigment formation. In addition, a genome‐wide association study has identified a common single‐nucleotide polymorphism near LRMDA (rs10824307) that is uniquely associated with a subtype of type 2 diabetes characterized by mild obesity‐related phenotypes, suggesting that genetic variation at or near this locus may influence metabolic regulation (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Moreover, integrative genomic analyses in pancreatic ductal adenocarcinoma have implicated mutation‐induced disturbances in LRMDA among other genes as contributing to poor prognosis, which raises the possibility that LRMDA may impact tumor biology or modify disease progression (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Collectively, these studies highlight LRMDA as a gene of interest whose proper function is critical both for melanogenesis and for influencing metabolic and oncologic outcomes.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Zilin Zhong, Li Gu, Xiujie Zheng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pigment Cell Melanoma Res (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/pcmr.12790"}], "href": "https://doi.org/10.1111/pcmr.12790"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31077556"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31077556"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Jenna E Rayner, David L Duffy, Darren J Smit, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0238529"}], "href": "https://doi.org/10.1371/journal.pone.0238529"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32966289"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32966289"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Dina Mansour Aly, Om Prakash Dwivedi, Rashmi B Prasad, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41588-021-00948-2"}], "href": "https://doi.org/10.1038/s41588-021-00948-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34737425"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34737425"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Haiyan Huang, Yi Zou, Huarong Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A qualitative transcriptional prognostic signature for patients with stage I-II pancreatic ductal adenocarcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Transl Res (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.trsl.2020.02.004"}], "href": "https://doi.org/10.1016/j.trsl.2020.02.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32119844"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32119844"}]}]}]}