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更新于：2025-05-07

IGSF1

更新于：2025-05-07

基本信息

别名

IGCD1、IGDC1、IGSF1

+ [9]

简介

Seems to be a coreceptor in inhibin signaling, but seems not to be a high-affinity inhibin receptor. Antagonizes activin A signaling in the presence or absence of inhibin B (By similarity). Necessary to mediate a specific antagonistic effect of inhibin B on activin-stimulated transcription.

关联

项与 IGSF1 相关的药物

WM-A1-001

靶点

IGSF1

作用机制

IGSF1 inhibitors

在研机构

Wellmarker Bio Co., Ltd.

原研机构

Wellmarker Bio Co., Ltd.

在研适应症

非小细胞肺癌 [+1]

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

WO2023022271

专利挖掘

靶点

IGSF1

作用机制-

在研机构

Wellmarker Bio Co., Ltd.

原研机构

Wellmarker Bio Co., Ltd.

在研适应症

肿瘤

非在研适应症-

最高研发阶段药物发现

首次获批国家/地区-

首次获批日期1800-01-20

100 项与 IGSF1 相关的临床结果

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100 项与 IGSF1 相关的转化医学

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0 项与 IGSF1 相关的专利（医药）

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115

项与 IGSF1 相关的文献（医药）

2025-04-01·Advanced Science

X‐Linked Gene Dosage and SOX2 Act as Key Roadblocks for Human Germ Cell Specification in Klinefelter Syndrome

Article

作者: Reda, Ahmed ; Chen, Jiayu ; Zhao, Allan ; Stukenborg, Jan‐Bernd ; Zhao, Jian ; He, Wenteng ; Deng, Qiaolin ; Luo, Qing ; Lindgren, Eva ; Wang, Mengting ; Feng, Luohua

AbstractKlinefelter syndrome (KS), characterized by the presence of at least one extra X‐chromosome, is a common cause of male infertility. However, the mechanism underlying the failure of germline specification is not well studied. Intriguingly, the differentiation efficiency of female human pluripotent stem cells (hPSCs) is often lower than that of male. This study investigates how X‐linked gene dosage affects human primordial germ cell‐like cells (hPGCLCs) specification in both healthy and diseased conditions. This work reveals that X‐linked genes play a multifaceted role against the fate competency to hPGCLCs, with escape genes IGSF1 and CHRDL1 inhibiting the TGF‐beta/Activin A and BMP pathways, respectively. Notably, this work identifies a previously unrecognized role of SOX2, upregulated by the escape gene USP9X, elucidating a species‐specific function in the mammalian germline. The USP9X‐SOX2 regulatory axis profoundly influenced cellular metabolism, mitochondrial morphology, and progenitor competence in hPGCLCs specification. Furthermore, the inability to downregulate SOX2 and upregulate SOX17 in response to BMP signaling impedes downstream gene activation due to motif binding competition. These findings shed novel insights into the human germline specification by elucidating the divergent roles of SOX2 versus SOX17 in mammals, influenced by X‐linked gene dosage effects. These results offer potential applications for improving the induction efficiency of hPGCLCs, facilitating disease mechanistic studies.

2025-03-27·JCEM Case Reports

A Novel De Novo Nonsense Pathogenic Variant in IGSF1 Resulting in Central Hypothyroidism and Transient GH Deficiency

Article

作者: Blackburn, James ; Gevers, Evelien ; Korbonits, Marta ; van Meijgaarden, Birgit ; Ahmed, Shahida ; Sivasanker, Banupriya

AbstractThe main features of immunoglobulin superfamily, member 1 (IGSF1) deficiency are central hypothyroidism and macroorchidism. The phenotype can be variable and may include macrosomia, hypoprolactinemia, growth hormone (GH) secretory abnormalities, delayed puberty, and obesity. We describe a novel de novo nonsense pathogenic variant c.3343C > T, p.(Gln1115*) that localizes to the 12th and last immunoglobulin-like loop in the C-terminal domain of the protein. The patient was born in breech with a birth weight of 3.7 kg. At presentation aged 15 years, he had obesity, central hypothyroidism, reduced attention, macroorchidism with delayed adrenarche and pubertal development. There was evidence of transient biochemical GH deficiency with normoprolactinemia and a small pituitary on magnetic resonance imaging, although interpretation of dynamic GH testing was difficult due to poor adherence with levothyroxine. He continued growing without GH treatment, and after spontaneous puberty, insulin-like growth factor-1 concentration was high. At age 22 years, he was 190 cm (+1.9 SDS), 155.4 kg (body mass index 43.05), with 35 mL testes. The transient GH deficiency and normoprolactinemia support a role for IGSF1 in somatotroph function.

2025-02-01·Translational Oncology

Identification and validation of a prognostic risk model based on radiosensitivity-related genes in nasopharyngeal carcinoma

Article

作者: Li, Yi ; Xu, Wenqian ; Hong, Xinyi ; Su, Yongyuan ; Qiu, Sufang ; Xie, Yingjie ; Li, Haolan ; Zheng, Xiong ; Chen, Xing ; Guo, Jinhong

BACKGROUNDDespite advancements with intensity-modulated radiation therapy (IMRT), about 10 % of nasopharyngeal carcinoma (NPC) patients remain resistant to radiotherapy, leading to recurrence and poor prognosis. This study aims to identify radiosensitivity-related genes in NPC and develop a prognostic model to predict patient outcomes.METHODSWe analyzed 179 NPC samples from Fujian Cancer Hospital using RNA sequencing. Differentially expressed genes (DEGs) were identified between radiotherapy-sensitive and resistant samples. Machine learning algorithms and Cox regression were used to construct a prognostic risk model, validated in the GSE102349 dataset. Additional analyses included functional pathway, immune infiltration, and drug sensitivity.RESULTSA risk model based on six genes (LCN8, IGSF1, RIMS2, RBP4, TBX10, ETV4) was developed. Kaplan-Meier analysis showed significantly shorter progression-free survival (PFS) in the high-risk group. The model's AUC values were 0.872, 0.807, and 0.802 for 1-year, 3-year, and 5-year predictions. A nomogram including clinical factors was created, and enrichment analysis linked the high-risk group to radiotherapy resistance mechanisms.CONCLUSIONSThis study established a novel radiosensitivity-related prognostic model, offering insights into NPC prognosis and radiotherapy resistance mechanisms.

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