Results 41 to 50 of about 10,255 (168)
IJU Case Reports, 2020 Introduction Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome is an autosomal dominant rare genetic disease. Some patients with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome may present with renal ...
Nobutaka Nishimura +9 more
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Advanced Science, EarlyView.Phase separation of SF3B1 acts as a key regulatory mechanism for dynamic alternative splicing throughout early mouse embryogenesis. Its absence triggers extensive splicing errors, which induce persistent DNA damage, defective cell cycle progression, and failed cell lineage commitment, and ultimately hinder the normal growth and development of ...
Kang Zhao +15 more
wiley +1 more source
Functional Analysis of a Novel GATA3 Mutation in a Family with the Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome [PDF]
The Journal of Clinical Endocrinology & Metabolism, 2005 AbstractThe hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by mutations of a member of the GATA-binding family of transcription factors, GATA3. This dual zinc finger transcription factor binds DNA with its C-terminal zinc finger (ZnF2) and stabilizes this binding with its N-terminal zinc finger
Zahirieh, A +9 more
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Targeting the YAP‐BST2 Axis Overcomes Intrinsic Anti‐PD‐1 Resistance in Metastatic Gastric Cancer
Advanced Science, EarlyView.Concurrent YAP hyperactivation and Tp53 loss in Atp4b‐expressed parietal cell lineage drives gastric cancer initiation, multi‐organ metastasis, and intrinsic resistance to anti‐PD‐1 therapy. BST2 emerges as a direct YAP‐TEAD transcriptional target that engages PIRA2 on myeloid cells to establish an immunosuppressive microenvironment.
Weihong Zhang +17 more
wiley +1 more source
Novel splice site mutation in <i>GATA3</i> in a patient with HDR syndrome
Clinical Pediatric Endocrinology, 2017 This is an open access article under the CC BY-NC-ND license.
Matsuo, Kumihiro +9 more
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CHD8‐Dependent Chromatin Licensing Sustains Trophoblast Stem Cell Transcriptional Programs
Advanced Science, EarlyView.In this study, Huang et al., identify chromatin remodeler CHD8 as an essential factor in TSC maintenance and placental development. CHD8‐dependent chromatin accessibility supports the occupancy of key trophoblast TFs and is coupled to KMT2A‐associated H3K4me3 deposition at TSC stem and cell cycle genes, providing a permissive chromatin environment for ...
Yuanyuan Huang +16 more
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Frontiers in Genetics, 2023 Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an infrequent autosomal dominant genetic disorder caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene.
Yilun Tao +7 more
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Advanced Science, EarlyView.A subset of tumor‐associated macrophages (TAMs) characterized by SPP1 expression is discovered, which may remodel the tumor microenvironment by potentially promoting CD4+ T cell stress and maintaining epithelial cell stemness through SPP1‐CD44, thereby potentially contributing to the proliferation and migration of tumor cells, which has been verified ...
Xinhui Yuan +5 more
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Phytotherapy Research, EarlyView.ABSTRACT Asthma affects 260–300 million people worldwide. About 20%–35% of patients use medicinal plants with their asthma medication, often without telling their clinicians. Disclosure rates are low; up to 42% of asthma outpatients use herbal products, with no records in their charts.
Emine Kocyigit +5 more
wiley +1 more source
Scientific ReportsBreast cancer remains a leading cause of cancer-related mortality among women, with triple-positive breast cancer (TPBC) being a particularly aggressive subtype. GATA binding protein 3 (GATA3) plays a crucial role in the luminal differentiation of breast
Xiuwen Chen +5 more
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