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Akademie Humangenetik 人类遗传学学会
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-11-29 DOI: 10.1515/medgen-2023-2053
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引用次数: 0
Syndromtag 2023 in Aachen vom 22.–23. September 9 月 22-23 日亚琛 2023 年综合征日
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-11-29 DOI: 10.1515/medgen-2023-2048
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引用次数: 0
Clinical applications and challenges in the field of extracellular vesicles 细胞外囊泡的临床应用与挑战
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-11-29 DOI: 10.1515/medgen-2023-2062
Jillian W.P. Bracht, R. Nieuwland, Agustin Enciso-Martinez
Abstract Body fluids contain cell-derived particles called extracellular vesicles (EVs). EVs are released by cells and are present in all body fluids (i. e. liquid biopsies). EVs contribute to physiology and pathology and offer a plethora of potential clinical applications, ranging from biomarkers to therapeutic applications. In this manuscript we provide an overview of this new and rapidly growing research field, along with its challenges and opportunities.
摘要 体液中含有被称为细胞外囊泡 (EV) 的细胞衍生颗粒。EVs由细胞释放,存在于所有体液(即液体活检样本)中。EVs有助于生理和病理,并提供了大量潜在的临床应用,从生物标记物到治疗应用不一而足。在本手稿中,我们将概述这个快速发展的新研究领域,以及它所面临的挑战和机遇。
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引用次数: 0
The changing face of circulating tumor DNA (ctDNA) profiling: Factors that shape the landscape of methodologies, technologies, and commercialization 循环肿瘤 DNA (ctDNA) 分析的变迁:影响方法、技术和商业化前景的因素
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-11-29 DOI: 10.1515/medgen-2023-2065
A. Bronkhorst, Stefan Holdenrieder
Abstract Liquid biopsies, in particular the profiling of circulating tumor DNA (ctDNA), have long held promise as transformative tools in cancer precision medicine. Despite a prolonged incubation phase, ctDNA profiling has recently experienced a strong wave of development and innovation, indicating its imminent integration into the cancer management toolbox. Various advancements in mutation-based ctDNA analysis methodologies and technologies have greatly improved sensitivity and specificity of ctDNA assays, such as optimized preanalytics, size-based pre-enrichment strategies, targeted sequencing, enhanced library preparation methods, sequencing error suppression, integrated bioinformatics and machine learning. Moreover, research breakthroughs have expanded the scope of ctDNA analysis beyond hotspot mutational profiling of plasma-derived apoptotic, mono-nucleosomal ctDNA fragments. This broader perspective considers alternative genetic features of cancer, genome-wide characterization, classical and newly discovered epigenetic modifications, structural variations, diverse cellular and mechanistic ctDNA origins, and alternative biospecimen types. These developments have maximized the utility of ctDNA, facilitating landmark research, clinical trials, and the commercialization of ctDNA assays, technologies, and products. Consequently, ctDNA tests are increasingly recognized as an important part of patient guidance and are being implemented in clinical practice. Although reimbursement for ctDNA tests by healthcare providers still lags behind, it is gaining greater acceptance. In this work, we provide a comprehensive exploration of the extensive landscape of ctDNA profiling methodologies, considering the multitude of factors that influence its development and evolution. By illuminating the broader aspects of ctDNA profiling, the aim is to provide multiple entry points for understanding and navigating the vast and rapidly evolving landscape of ctDNA methodologies, applications, and technologies.
摘要 长期以来,液体活检,特别是循环肿瘤 DNA(ctDNA)分析,一直有望成为癌症精准医疗的变革性工具。尽管ctDNA分析经历了漫长的潜伏期,但最近却出现了强劲的发展和创新浪潮,这表明它即将被纳入癌症管理工具箱。基于突变的ctDNA分析方法和技术的各种进步大大提高了ctDNA检测的灵敏度和特异性,如优化的预分析、基于大小的预富集策略、靶向测序、增强型文库制备方法、测序误差抑制、集成生物信息学和机器学习。此外,研究突破还扩大了ctDNA分析的范围,不仅限于对血浆中凋亡的单核糖体ctDNA片段进行热点突变分析。这一更广阔的视角考虑了癌症的其他遗传特征、全基因组特征、经典和新发现的表观遗传修饰、结构变异、不同的细胞和机理ctDNA起源以及其他生物样本类型。这些发展最大限度地提高了 ctDNA 的效用,促进了具有里程碑意义的研究、临床试验以及 ctDNA 检测、技术和产品的商业化。因此,人们越来越认识到 ctDNA 检测是患者指导的重要组成部分,并将其应用于临床实践中。尽管医疗机构对 ctDNA 检测的报销仍然滞后,但其接受度正在不断提高。在这项工作中,我们全面探讨了ctDNA分析方法的广泛前景,并考虑了影响其发展和演变的众多因素。通过阐明ctDNA图谱分析更广泛的方面,旨在提供多个切入点,以了解和驾驭ctDNA方法学、应用和技术的广阔而快速发展的前景。
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引用次数: 0
Tagungsbericht ESHG Jahrestagung 10.06. bis 13.06.2023 in Glasgow: The Future of Genetics is now. ESHG年会报告10.06。至13.06.2023在格拉斯哥
IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-08-16 eCollection Date: 2023-09-01 DOI: 10.1515/medgen-2023-2041
Ronja Hollstein
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引用次数: 0
Classic genetic and hormonal switches during fetal sex development and beyond. 胎儿性别发育及以后的经典遗传和激素转换
IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-08-16 eCollection Date: 2023-09-01 DOI: 10.1515/medgen-2023-2036
Paul-Martin Holterhus, Alexandra Kulle, Hauke Busch, Malte Spielmann

Critical genetic and hormonal switches characterize fetal sex development in humans. They are decisive for gonadal sex determination and subsequent differentiation of the genital and somatic sex phenotype. Only at the first glace these switches seem to behave like the dual 0 and 1 system in computer sciences and lead invariably to either typically male or female phenotypes. More recent data indicate that this model is insufficient. In addition, in case of distinct mutations, many of these switches may act variably, causing a functional continuum of alterations of gene functions and -dosages, enzymatic activities, sex hormone levels, and sex hormone sensitivity, giving rise to a broad clinical spectrum of biological differences of sex development (DSD) and potentially diversity of genital and somatic sex phenotypes. The gonadal anlage is initially a bipotential organ that can develop either into a testis or an ovary. Sex-determining region Y (SRY) is the most important upstream switch of gonadal sex determination inducing SOX9 further downstream, leading to testicular Sertoli cell differentiation and the repression of ovarian pathways. If SRY is absent (virtually "switched off"), e. g., in 46,XX females, RSPO1, WNT4, FOXL2, and other factors repress the male pathway and promote ovarian development. Testosterone and its more potent derivative, dihydrotestosterone (DHT) as well as AMH, are the most important upstream hormonal switches in phenotypic sex differentiation. Masculinization of the genitalia, i. e., external genital midline fusion forming the scrotum, growth of the genital tubercle, and Wolffian duct development, occurs in response to testosterone synthesized by steroidogenic cells in the testis. Müllerian ducts will not develop into a uterus and fallopian tubes in males due to Anti-Müllerian-Hormone (AMH) produced by the Sertoli cells. The functionality of these two hormone-dependent switches is ensured by their corresponding receptors, the intracellular androgen receptor (AR) and the transmembrane AMH type II receptor. The absence of high testosterone and high AMH is crucial for anatomically female genital development during fetal life. Recent technological advances, including single-cell and spatial transcriptomics, will likely shed more light on the nature of these molecular switches.

摘要人类胎儿性别发育的关键基因和激素转换特征。它们对性腺性别决定以及随后生殖和体细胞性别表型的分化具有决定性作用。只有在最初的阶段,这些开关似乎表现得像计算机科学中的双0和1系统,并总是导致典型的男性或女性表型。最近的数据表明,这种模式是不够的。此外,在不同突变的情况下,这些开关中的许多可能会起到不同的作用,导致基因功能和剂量、酶活性、性激素水平和性激素敏感性的功能连续性改变,从而导致性发育生物学差异(DSD)的广泛临床范围,以及生殖器和体细胞性表型的潜在多样性。性腺原质最初是一个双能器官,可以发育成睾丸或卵巢。性别决定区Y(SRY)是性腺性别决定的最重要的上游开关,诱导SOX9进一步下游,导致睾丸支持细胞分化和卵巢途径的抑制。如果SRY不存在(实际上是“关闭”),e。 g.在46,XX雌性中,RSPO1、WNT4、FOXL2和其他因素抑制雄性途径并促进卵巢发育。睾酮及其更强效的衍生物二氢睾酮(DHT)和AMH是表型性别分化中最重要的上游激素转换。生殖器的男性化。 e.形成阴囊的外生殖器中线融合、生殖器结节的生长和Wolffian管的发育,是对睾丸中类固醇生成细胞合成的睾酮的反应。由于支持细胞产生的抗米勒激素(AMH),男性的米勒管不会发育成子宫和输卵管。这两种激素依赖性开关的功能由其相应的受体,细胞内雄激素受体(AR)和跨膜AMH II型受体来确保。缺乏高睾酮和高AMH对胎儿期女性生殖器官的解剖学发育至关重要。最近的技术进步,包括单细胞和空间转录组学,可能会对这些分子开关的性质有更多的了解。
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引用次数: 0
The past and future of "sex genes". “性基因”的过去和未来
IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-08-16 eCollection Date: 2023-09-01 DOI: 10.1515/medgen-2023-2040
Christoph Rehmann-Sutter, Nadine Hornig, Birgit Stammberger, Heiko Stoff

Much later than the discovery of "sex chromosomes" and of "sex hormones", genetics started delivering detailed explanations of sex-determining developmental pathways. Despite increasing knowledge of biological processes, concepts and theories about sex development are never based on facts alone. There are inevitable entanglements of biological description and changing cultural assumptions and they play a key role in how sex genes are framed and interpreted in biological research. In this review article we first focus on the early 20th century biology that worked in a hormone-based paradigm. Genetic explanations emerged later, first on the basis of sex chromosomes; starting in the 1980s, on the basis of genes. We highlight orthodox views of female development, which saw the default pathway of human sex development. We will show how recent findings in biology challenge it. The article discusses the interactions of causal claims in science with cultural assumption about gender and outlines three influential strands of critical feminist philosophy of science: the critique of genetic determinism and genetic essentialism, of dualist assumptions, and of an androcentric bias in the conception of research strategies. In the final section we suggest key agenda points of future genetic research on sex determination.

摘要早在“性染色体”和“性激素”的发现之后,遗传学就开始对决定性别的发育途径进行详细的解释。尽管对生物过程的了解越来越多,但关于性发展的概念和理论从来都不是基于事实。生物学描述和不断变化的文化假设不可避免地会纠缠在一起,它们在生物学研究中如何构建和解释性基因方面发挥着关键作用。在这篇综述文章中,我们首先关注20世纪初以激素为基础的生物学。后来出现了遗传学解释,首先是基于性染色体;从20世纪80年代开始,基于基因。我们强调了正统的女性发展观,认为这是人类性发展的默认途径。我们将展示生物学的最新发现是如何挑战它的。文章讨论了科学中因果主张与性别文化假设的相互作用,并概述了批判女权主义科学哲学的三个有影响力的方面:对基因决定论和基因本质主义的批判,对二元假设的批判,以及研究策略概念中的以男性为中心的偏见。在最后一节中,我们提出了未来性别决定基因研究的关键议程点。
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引用次数: 0
Is sex still binary? 性别仍然是二元的吗?
IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-08-16 eCollection Date: 2023-09-01 DOI: 10.1515/medgen-2023-2039
Christoph Rehmann-Sutter, Olaf Hiort, Ulrike M Krämer, Lisa Malich, Malte Spielmann

In this perspective article we discuss the limitations of sex as a binary concept and how it is challenged by medical developments and a better understanding of gender diversity. Recent data indicate that sex is not a simple binary classification based solely on genitalia at birth or reproductive capacity but encompasses various biological characteristics such as chromosomes, hormones, and secondary sexual characteristics. The existence of individuals with differences in sex development (DSD) who do not fit typical male or female categories further demonstrates the complexity of sex. We argue that the belief that sex is strictly binary based on gametes is insufficient, as there are multiple levels of sex beyond reproductivity. We also explore the role of sex in sex determination, gene expression, brain development, and behavioural patterns and emphasize the importance of recognizing sex diversity in personalized medicine, as sex can influence disease presentation, drug response, and treatment effectiveness. Finally, we call for an inter- and transdisciplinary approach to study sex diversity and develop new categories and methodologies that go beyond a binary model.

在这篇透视文章中,我们讨论了性别作为二元概念的局限性,以及它如何受到医学发展和对性别多样性更好理解的挑战。最近的数据表明,性别不是一个简单的二元分类,仅仅基于出生时的生殖器或生殖能力,而是包括各种生物特征,如染色体,激素和第二性征。性别发育差异(DSD)个体的存在,不符合典型的男性或女性类别,进一步证明了性别的复杂性。我们认为,认为性别是严格基于配子的二元性是不充分的,因为在生殖能力之外还有多个层次的性别。我们还探讨了性别在性别决定、基因表达、大脑发育和行为模式中的作用,并强调了在个性化医疗中认识到性别多样性的重要性,因为性别可以影响疾病的表现、药物反应和治疗效果。最后,我们呼吁采用跨学科和跨学科的方法来研究性别多样性,并开发超越二元模型的新类别和方法。
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引用次数: 0
The Role of Genetics in Sex Diversity. 基因在性别多样性中的作用
IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-08-16 eCollection Date: 2023-09-01 DOI: 10.1515/medgen-2023-2035
Olaf Hiort, Ulrike Krämer, Lisa Malich, Christoph Rehmann-Sutter, Malte Spielmann
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引用次数: 0
Protokoll der 33. Ordentlichen Mitgliederversammlung des VPAH e.V. : Kassel, den 15.03.2023, 14:00–15:30 Uhr. 33号会议纪录VPAH . v . s。
IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-08-16 eCollection Date: 2023-09-01 DOI: 10.1515/medgen-2023-2034
Caren Walter
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引用次数: 0
期刊
Medizinische Genetik
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