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    NR0B1 nuclear receptor subfamily 0 group B member 1 [ Homo sapiens (human) ]

    Gene ID: 190, updated on 27-Aug-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    NR0B1 augments sorafenib resistance in hepatocellular carcinoma through promoting autophagy and inhibiting apoptosis.

    NR0B1 augments sorafenib resistance in hepatocellular carcinoma through promoting autophagy and inhibiting apoptosis.
    Tan XL, Wang Z, Liao S, Yi M, Tao D, Zhang X, Leng X, Shi J, Xie S, Yang Y, Liu YQ., Free PMC Article

    02/16/2024
    New insights into X-linked adrenal hypoplasia congenita from a novel splice-site variant of NR0B1 and adrenal CT images.

    New insights into X-linked adrenal hypoplasia congenita from a novel splice-site variant of NR0B1 and adrenal CT images.
    Jiang Y, Peng H, Zhao R, Chang Y, Liu J, Fu L, Li L, Ma Y, Li W, Jiang H., Free PMC Article

    06/18/2023
    Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita.

    Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita.
    Ota T, Katsumata N, Naiki Y, Horikawa R.

    10/29/2022
    Adrenal Hypoplasia Congenita-Hypogonadotropic Hypogonadism Syndrome Due to NR0B1 Gene Mutations.

    Adrenal Hypoplasia Congenita-Hypogonadotropic Hypogonadism Syndrome Due to NR0B1 Gene Mutations.
    Gupta P, Sharma R, Jain V.

    05/21/2022
    Inhibition of beta-catenin dependent WNT signalling upregulates the transcriptional repressor NR0B1 and downregulates markers of an A9 phenotype in human embryonic stem cell-derived dopaminergic neurons: Implications for Parkinson's disease.

    Inhibition of β-catenin dependent WNT signalling upregulates the transcriptional repressor NR0B1 and downregulates markers of an A9 phenotype in human embryonic stem cell-derived dopaminergic neurons: Implications for Parkinson's disease.
    Haynes JM, Sibuea SM, Aguiar AA, Li F, Ho JK, Pouton CW., Free PMC Article

    01/15/2022
    Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia.

    Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia.
    Fan DB, Li L, Zhang HH., Free PMC Article

    11/13/2021
    Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.

    Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.
    Vargas MCC, Moura FS, Elias CP, Carvalho SR, Rassi N, Kunii IS, Dias-da-Silva MR, Costa-Barbosa FA., Free PMC Article

    11/28/2020
    A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia.

    A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia.
    Wu SM, Gao JZ, He B, Long WJ, Luo XP, Chen L.

    10/24/2020
    microRNA-106a promoted the invasion, migration, and proliferation of breast cancer by targeting DAX-1

    MiRNA-106a promotes breast cancer progression by regulating DAX-1.
    Liu C, Song YH, Mao Y, Wang HB, Nie G.

    08/1/2020
    an intrinsic, gonadotropin- and ACTH-independent activation of steroidogenesis in the DAX1 deficient testes leads to precocious puberty in adrenal hypoplasia congenital in patients with DAX1 mutations.

    Gonadotropin- and Adrenocorticotropic Hormone-Independent Precocious Puberty of Gonadal Origin in a Patient with Adrenal Hypoplasia Congenita Due to DAX1 Gene Mutation - A Case Report and Review of the Literature: Implications for the Pathomechanism.
    Nagel SA, Hartmann MF, Riepe FG, Wudy SA, Wabitsch M.

    02/8/2020
    Mutations in NR0B1 gene are associated with adrenal insufficiency.

    Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children.
    Gupta S, Joshi K, Zaidi G, Sarangi AN, Mandal K, Bhavani N, Pavithran PV, Pillai MG, Singh SK, Godbole T, Bhatia V, Bhatia E.

    01/25/2020
    Silence of DAX1 significantly inhibited the cell growth, tumorigenicity, and tumorsphere formation.

    DAX1 promotes cervical cancer cell growth and tumorigenicity through activation of Wnt/β-catenin pathway via GSK3β.
    Liu XF, Li XY, Zheng PS, Yang WT., Free PMC Article

    11/2/2019
    Genetic analysis revealed a novel missense c.827A>C of DAX1 (p.Q276P) mutation in a hotspot region within a highly conserved domain

    [A four-generation pedigree affected with X-linked adrenal hypoplasia congenita due to a novel missense DAX1 mutation].
    Yin Z, Jin W, Xu W, Li H, Zhang S, Peng L, Chen X, Peng G, Han L.

    08/17/2019
    A novel missense mutation (c.775T>C; p.ser259Pro) in the NROBI gene cause a late-onset adrenal insufficiency without hypogonadism.

    A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults.
    Oh CM, Chun S, Lee JE, Lee JS, Park S, Gee HY, Kim SW.

    05/5/2018
    Based on the level of NR0B1 expression in lung adenocarcinoma cells with different clinical stages, our results indicate that epigenetic modifications promote NR0B1 activation to maintain the self-renewal of cancer cells.

    Epigenetic modifications promote the expression of the orphan nuclear receptor NR0B1 in human lung adenocarcinoma cells.
    Lu Y, Liu Y, Liao S, Tu W, Shen Y, Yan Y, Tao D, Lu Y, Ma Y, Yang Y, Zhang S., Free PMC Article

    12/30/2017
    Nonsense mutation in the DAX-1 gene is associated with precocious puberty and late-onset hypogonadotropic hypogonadism.

    A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogonadotropic hypogonadism.
    Liu Y, Yuan J, Zhang H, Jiang Y, Qin G.

    08/26/2017
    These findings suggested that the mutation of NR0B1 in X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism enhanced the function of DAX1 to repress SF-1 activation, while DAX1 is expected to have additional roles in the pathological mechanism.

    X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and in vitro study of a novel small indel in the NR0B1 gene.
    Yu T, Wang J, Yu Y, Huang X, Fu Q, Shen Y, Chen F.

    02/18/2017
    DAX1 and SF1 expression positively correlated in pediatric adrenocortical tumors, suggesting that these transcription factors might cooperate in adrenocortical tumorigenesis.

    DAX1 Overexpression in Pediatric Adrenocortical Tumors: A Synergic Role with SF1 in Tumorigenesis.
    de Sousa GR, Soares IC, Faria AM, Domingues VB, Wakamatsu A, Lerario AM, Alves VA, Zerbini MC, Mendonca BB, Fragoso MC, Latronico AC, Almeida MQ.

    06/4/2016
    This novel mutation (p. V385L) of DAX-1 is the first to be identified in association with secretory azoospermia, thereby highlighting the important role of DAX-1 in spermatogenesis.

    A Novel Mutation of DAX-1 Associated with Secretory Azoospermia.
    Mou L, Xie N, Yang L, Liu Y, Diao R, Cai Z, Li H, Gui Y., Free PMC Article

    05/14/2016
    DAX-1 is less specific than Ap2beta, however it is a sensitive marker for translocation positive ARMS and can be helpful in their diagnosis if used in combination with Ap2beta

    DAX-1 Expression in Pediatric Rhabdomyosarcomas: Another Immunohistochemical Marker Useful in the Diagnosis of Translocation Positive Alveolar Rhabdomyosarcoma.
    Virgone C, Lalli E, Bisogno G, Lazzari E, Roma J, Zin A, Poli E, Cecchetto G, Dall'Igna P, Alaggio R., Free PMC Article

    04/30/2016
    DAX1 mutations were associated with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

    Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
    Qin G, Ji H, Li X, Ma X, Wang D.

    04/16/2016
    Case Report: novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.

    A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.
    Rojek A, Flader M, Malecka E, Niedziela M.

    10/31/2015
    DAX-1 protein is necessary to maintain normal spermatogenesis. In humans, male fertility has been studied in few patients carrying DAX-1 mutations. Review.

    Are human male patients with DAX1/NR0B1 mutations infertile?
    Ravel C, Hyon C, Siffroi JP, Christin-Maitre S.

    07/25/2015
    results suggest a previously unknown DAX-1/beta-Catenin molecular network controlling HCC development

    DAX-1 inhibits hepatocellular carcinoma proliferation by inhibiting β-catenin transcriptional activity.
    Jiang HL, Xu D, Yu H, Ma X, Lin GF, Ma DY, Jin JZ.

    06/20/2015
    Two Taiwanese patients with adrenal hypoplasia congenita were detected to have novel mutations of the DAX1 (NR0B1) gene.

    Novel deletion mutations of the DAX1 (NR0B1) gene in two Taiwanese families with X-linked adrenal hypoplasia congenita.
    Tsai WY, Tung YC.

    05/4/2015
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