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    LMX1B LIM homeobox transcription factor 1 beta [ Homo sapiens (human) ]

    Gene ID: 4010, updated on 17-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype.

    De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype.
    Francis D, Lall P, Ayres S, Van Bergen NJ, Christodoulou J, Brown NJ, Kalitsis P.

    01/11/2024
    ATG8-dependent LMX1B-autophagy crosstalk shapes human midbrain dopaminergic neuronal resilience.

    ATG8-dependent LMX1B-autophagy crosstalk shapes human midbrain dopaminergic neuronal resilience.
    Jiménez-Moreno N, Kollareddy M, Stathakos P, Moss JJ, Antón Z, Shoemark DK, Sessions RB, Witzgall R, Caldwell M, Lane JD., Free PMC Article

    04/6/2023
    Knockdown of LMX1B Suppressed Cell Apoptosis and Inflammatory Response in IL-1beta-Induced Human Osteoarthritis Chondrocytes through NF-kappaB and NLRP3 Signal Pathway.

    Knockdown of LMX1B Suppressed Cell Apoptosis and Inflammatory Response in IL-1β-Induced Human Osteoarthritis Chondrocytes through NF-κB and NLRP3 Signal Pathway.
    Mu Y, Wang L, Fu L, Li Q., Free PMC Article

    10/1/2022
    Association analysis of variants rs35934224 in TXNRD2 and rs6478746 in LMX1B in primary angle-closure and pseudoexfoliation glaucoma.

    Association analysis of variants rs35934224 in TXNRD2 and rs6478746 in LMX1B in primary angle-closure and pseudoexfoliation glaucoma.
    Kondkar AA, Sultan T, Alobaidan AS, Azad TA, Osman EA, Almobarak FA, Lobo GP, Al-Obeidan SA.

    07/23/2022
    LMX1B Activated Circular RNA GFRA1 Modulates the Tumorigenic Properties and Immune Escape of Prostate Cancer.

    LMX1B Activated Circular RNA GFRA1 Modulates the Tumorigenic Properties and Immune Escape of Prostate Cancer.
    Meng M, Wu YC., Free PMC Article

    07/23/2022
    hsa-miR-206b Involves in the Development of Papillary Thyroid Carcinoma via Targeting LMX1B.

    hsa-miR-206b Involves in the Development of Papillary Thyroid Carcinoma via Targeting LMX1B.
    Lu H, Zhu C, Ruan Y, Fan L, Ruan Z, Chen Q, Yuan J, Xu Y, Wang H, Wei Q., Free PMC Article

    04/16/2022
    Long noncoding RNA SNHG3 promotes glioma tumorigenesis by sponging miR-485-5p to upregulate LMX1B expression.

    Long noncoding RNA SNHG3 promotes glioma tumorigenesis by sponging miR-485-5p to upregulate LMX1B expression.
    Guo X, Zheng J, Yu MJ, Piao HZ, Zhao HY.

    02/12/2022
    LMX1B Locus Associated with Low-Risk Baseline Glaucomatous Features in the POAAGG Study.

    LMX1B Locus Associated with Low-Risk Baseline Glaucomatous Features in the POAAGG Study.
    Meer E, Qin VL, Gudiseva HV, McGeehan B, Salowe R, Pistilli M, He J, Daniel E, Ying GS, Chavali VRM, O'Brien JM., Free PMC Article

    02/5/2022
    Whole-Exome Sequencing Solved over 2-Decade Kidney Disease Enigma.

    Whole-Exome Sequencing Solved over 2-Decade Kidney Disease Enigma.
    Isaranuwatchai S, Chanakul A, Ittiwut C, Srichomthong C, Shotelersuk V, Praditpornsilpa K, Suphapeetiporn K.

    12/4/2021
    Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.

    Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.
    Haro E, Petit F, Pira CU, Spady CD, Lucas-Toca S, Yorozuya LI, Gray AL, Escande F, Jourdain AS, Nguyen A, Fellmann F, Good JM, Francannet C, Manouvrier-Hanu S, Ros MA, Oberg KC., Free PMC Article

    10/16/2021
    Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.

    Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.
    Lei L, Oh G, Sutherland S, Abra G, Higgins J, Sibley R, Troxell M, Kambham N.

    06/19/2021
    LMX1B-associated gankyrin expression predicts poor prognosis in glioma patients.

    LMX1B-associated gankyrin expression predicts poor prognosis in glioma patients.
    Guo X, Piao H, Xue Y, Liu Y, Zhao H., Free PMC Article

    06/19/2021
    LMX1B rs10733682 Polymorphism Interacts with Macronutrients, Dietary Patterns on the Risk of Obesity in Han Chinese Girls.

    LMX1B rs10733682 Polymorphism Interacts with Macronutrients, Dietary Patterns on the Risk of Obesity in Han Chinese Girls.
    Zhu Q, Xue K, Guo HW, Yang YH., Free PMC Article

    04/17/2021
    LMX1B is a key regulator involved in the radioresistance of Esophagela cancer.

    LMX1B involved in the radioresistance, proliferation and migration of esophageal cancer cells.
    Zang C, Zhao F, Pu Y.

    02/8/2020
    Upregulated LMX1B mRNA expression had an independent prognostic value in LSCC patients.

    LMX1B mRNA expression and its gene body CpG methylation are valuable prognostic biomarkers for laryngeal squamous cell carcinoma.
    Fan L, Zhang A, Deng P.

    01/18/2020
    Study reports two additional families with 18 affected individuals with nail patella-like renal disease (NPLRD). The predominant LMX1B mutation is the previously reported R246Q mutation.

    Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.
    Hall G, Lane B, Chryst-Ladd M, Wu G, Lin JJ, Qin X, Hauser ER, Gbadegesin R., Free PMC Article

    11/3/2018
    Study identified a novel heterozygous in-frame indel mutation of LMX1B in a family of Nail patella syndrome.

    A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B.
    Mukai M, Fujita H, Umegaki-Arao N, Sasaki T, Yasuda-Sekiguchi F, Isojima T, Kitanaka S, Amagai M, Kubo A.

    09/8/2018
    9q33.3q34.11 microdeletion including LMX1b gene identified in four patients with intellectual disability, epilepsy, nail dysplasia and bone malformations.

    9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.
    Nambot S, Masurel A, El Chehadeh S, Mosca-Boidron AL, Thauvin-Robinet C, Lefebvre M, Marle N, Thevenon J, Perez-Martin S, Dulieu V, Huet F, Plessis G, Andrieux J, Jouk PS, Billy-Lopez G, Coutton C, Morice-Picard F, Delrue MA, Heron D, Rooryck C, Goldenberg A, Saugier-Veber P, Joly-Hélas G, Calenda P, Kuentz P, Manouvrier-Hanu S, Dupuis-Girod S, Callier P, Faivre L., Free PMC Article

    07/29/2017
    Report progression of autosomal dominant renal-limited disease with LMX1B mutation.

    Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.
    Konomoto T, Imamura H, Orita M, Tanaka E, Moritake H, Sato Y, Fujimoto S, Harita Y, Hisano S, Yoshiura K, Nunoi H.

    03/4/2017
    38 different LMX1B polymorphisms have been found in 55 families with Nail-Patella Syndrome raising the hypothesis of a genetic heterogeneity.

    Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.
    Ghoumid J, Petit F, Holder-Espinasse M, Jourdain AS, Guerra J, Dieux-Coeslier A, Figeac M, Porchet N, Manouvrier-Hanu S, Escande F., Free PMC Article

    09/24/2016
    Lmx1a and Lmx1b expression persists in mature dopaminergic neurons of the substantia nigra pars compacta and the ventral tegmental area. [Review]

    Cell fate determination, neuronal maintenance and disease state: The emerging role of transcription factors Lmx1a and Lmx1b.
    Doucet-Beaupré H, Ang SL, Lévesque M.

    04/30/2016
    these results reveal a sustained and essential requirement of Lmx1b for the function of midbrain dopamine neurons

    Dopaminergic control of autophagic-lysosomal function implicates Lmx1b in Parkinson's disease.
    Laguna A, Schintu N, Nobre A, Alvarsson A, Volakakis N, Jacobsen JK, Gómez-Galán M, Sopova E, Joodmardi E, Yoshitake T, Deng Q, Kehr J, Ericson J, Svenningsson P, Shupliakov O, Perlmann T.

    08/8/2015
    A heterozygous microdeletion of the entire LMX1B gene using multiplex ligation-dependent probe amplification (MLPA) in a Chinese family with nail patella syndrome, is reported.

    A microdeletion of chromosome 9q33.3 encompasses the entire LMX1B gene in a Chinese family with nail patella syndrome.
    Jiang S, Zhang J, Huang D, Zhang Y, Liu X, Wang Y, He R, Zhao Y., Free PMC Article

    06/27/2015
    Results demonstrate that loss of function may not be the only way that mutated LMX1b causes haploinsufficiency. Mutated LMX1b may interfere withdownsteam transcription events.

    Biochemical properties of the recurrent LMX1b truncated mutant carried in a Taiwanese family with nail-patella syndrome.
    Wang WM, Chen JF, Liu ST, Hsu YJ, Liu YC, Huang SM.

    05/16/2015
    In a large family with the two disorders with two novel frameshift TSC1 and LMX1B mutations, we describe the phenotypes

    Combined TSC1 and LMX1B mutations in a single patient.
    Khalifa O, Al-Sakati N, Al-Mane K, Balobaid A, Al-Hassnan ZN.

    10/25/2014
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