Ming Tu

Recessive SMC5 Variants in a Family with Near-Tetraploidy/Mosaic Variegated Aneuploidy

Yongjia Yang, Nian Li, Cheng Liu, Songting Li et autres

Background/Objectives: Mosaic variegated aneuploidy (MVA) is a rare chromosomal instability disorder. Biallelic variants in SMC5, a core component of the DNA repair machinery, cause Atelis Syndrome, characterized by severe growth failure and multi-system abnormalities. This study aimed to identify the genetic cause …

cn (code pays fourni par la source)

Process-Supervised Reinforcement Learning for Interactive Multimodal Tool-Use Agents

Weiting Tan, Xinghua Qu, Ming Tu, Meng Ge et autres

Effective interactive tool use requires agents to master Tool Integrated Reasoning (TIR): a complex process involving multi-turn planning and long-context dialogue management. To train agents for this dynamic process, particularly in multi-modal contexts, we introduce a sandbox environment for reinforcement learning (RL) …

Seed-ASR: Understanding Diverse Speech and Contexts with LLM-based Speech Recognition

Ye Bai, Jingping Chen, Jitong Chen, Wei Chen et autres

Modern automatic speech recognition (ASR) model is required to accurately transcribe diverse speech signals (from different domains, languages, accents, etc) given the specific contextual information in various application scenarios. Classic end-to-end models fused with extra language models perform well, but mainly in …

Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192

Jihong Guo, Wenbin He, Lei Dai, Fen Tian et autres

In this study, we report on mosaic variegated aneuploidy (MVA) syndrome with tetraploidy and predisposition to infertility in a family. Sequencing analysis identified that the CEP192 biallelic variants (c.1912C>T, p.His638Tyr and c.5750A>G, p.Asn1917Ser) segregated with microcephaly, short stature, limb-extremity dysplasia, and reduced …

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Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192

Jihong Guo, Wenbin He, Lei Dai, Fen Tian et autres

Abstract In the present study, we report on mosaic variegated aneuploidy (MVA) syndrome with tetraploidy and predisposition to infertility in a family. Sequencing analysis identified that the CEP192 biallelic variants (c.1912C>T/p.H638Y and c.5750A>G/p.N1917S) segregated with microcephaly, short stature, limb–extremity dysplasia, and reduced …

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Loss of function NOG variant causes radiounlar synostosis

Fang Shen, Zhenqing Luo, Yu Long Zheng, Mei Deng et autres

Abstract Background: Several NOG variants have been reported in patients with congenital joint fusion syndromes. Radioulnar synostosis (RUS) is the most common joint malformation of upper limbs. This study aims to explore NOG mutations in RUS. Methods: Exome and Sanger sequencing data …

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Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations

Fang Shen, Yongjia Yang, Yu Long Zheng, Ming Tu et autres

B3GALT6 is a well-documented disease-related gene. Several B3GALT6-recessive variants have been reported to cause Ehlers–Danlos syndrome (EDS). To the best of our knowledge, no dominant B3GALT6 variant that causes human disease has been reported. In 2012, we reported on a three-generation, autosomal-dominant …

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A comprehensive appraisal of evolutionary diversity in venomous Asian coralsnakes of the genusSinomicrurus(Serpentes: Elapidae) using Bayesian coalescent inference and supervised machine learning

Utpal Smart, Matthew J. Ingrasci, Goutam C. Sarker, Hmartlawmte Lalremsanga et autres

While species boundaries between conspicuously divergent populations of the medically important snake genus Sinomicrurus are well established, instances of erratic chromatic and meristic variation continue to confound taxonomists, since the mid-1800s. This predicament can be attributed to an inadequate molecular phylogenetic framework …

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A new species of Lygodium (Schizaeaceae) from the Buxin Formation (middle Paleocene), Sanshui Basin, South China

S. V. Naugolnykh, Ming Tu, Jianhua Jin

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Correction: SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis

Yongjia Yang, Yu Zheng, Wangming Li, Liping Li et autres

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SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis

Yongjia Yang, Yu Zheng, Wangming Li, Liping Li et autres

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Diversity of Menispermaceae from the Paleocene and Eocene of South China

Han Meng, Xinkai Wu, Ming Tu, Тatiana M. Kodrul et autres

Abstract We present here the earliest known Asian fossil records of the Menispermaceae based on fossil fruits from Paleocene and Eocene localities in South China. A new genus and species, Paleoorbicarpum parvum sp. nov., and two new species of Stephania Loureiro, S. …

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