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Figure 5 from: Chen Z, Hu T, Pei X, Yang G, Yong F, Xu Z, Qu W, Onditi KO, Zhang B (2022) A new species of Asiatic shrew of the genus Chodsigoa (Soricidae, Eulipotyphla, Mammalia) from the Dabie Mountains, Anhui Province, eastern China. ZooKeys 1083: 129-146. https://doi.org/10.3897/zookeys.1083.78233

Chen, Zhongzheng ; Hu, Tingli ; Pei, Xiaoxin ; [et al.]

Pensoft Publishers ; 2022

In: ZooKeys Vol. 1083 ( 2022-01-25), p. 129-146

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In: ZooKeys, Pensoft Publishers, Vol. 1083 ( 2022-01-25), p. 129-146

Abstract: Asiatic shrews of the genus Chodsigoa (Soricidae, Eulipotyphla) currently comprise nine species, mostly occurring in southwest China. From May 2017 to August 2020, 11 specimens of Chodsigoa were collected from the Dabie Mountains in Anhui Province, eastern China. Their morphology was compared with other species within the genus and one mitochondrial (cytochrome b) and two nuclear (apolipoprotein B and breast cancer 1) genes were sequenced to estimate the phylogenetic relationships of these specimens. Based on morphological and molecular evidence, these specimens are recognized as a distinct species, Chodsigoa dabieshanensis sp. nov. , which is formally described here. Morphologically, the new species is most similar to Chodsigoa hypsibia , but it is distinguishable from all known congeners by the combination of dark brownish pelage, small size, and relatively short tail. Phylogenetic analyses revealed that C. dabieshanensis sp. nov. forms a phylogenetic lineage sister to the clade containing C. parva + C. hypsibia. The-Kimura 2-parameter genetic distances of the cytochrome b (CYT B) gene between the new species and other nominal Chodsigoa species ranged between 8.6 and 17.6%. The new species is distributed at elevations from 750 to 1250 m in the Dabie Mountains and is geographically distant from other species in the genus.

Type of Medium: Online Resource

ISSN: 1313-2970 , 1313-2989

URL: Article

DOI: 10.3897/zookeys.1083.78233

DOI: 10.3897/zookeys.1083.78233.figure1

DOI: 10.3897/zookeys.1083.78233.figure2

DOI: 10.3897/zookeys.1083.78233.figure3

DOI: 10.3897/zookeys.1083.78233.figure4

DOI: 10.3897/zookeys.1083.78233.figure5

Language: Unknown

Publisher: Pensoft Publishers

Publication Date: 2022

detail.hit.zdb_id: 2445640-8

SSG: 12

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Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis

Chen, Zefu ; Yan, Zihui ; Yu, Chenxi ; [et al.]

Springer Science and Business Media LLC ; 2020

In: Orphanet Journal of Rare Diseases Vol. 15, No. 1 ( 2020-12)

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In: Orphanet Journal of Rare Diseases, Springer Science and Business Media LLC, Vol. 15, No. 1 ( 2020-12)

Abstract: We previously reported a novel clinically distinguishable subtype of congenital scoliosis (CS), namely, TBX6 -associated congenital scoliosis (TACS). We further developed the TBX6 -associated CS risk score (TACScore), a multivariate phenotype-based model to predict TACS according to the patient’s clinical manifestations. In this study, we aimed to evaluate whether using the TACScore as a screening method prior to performing whole-exome sequencing (WES) is more cost-effective than using WES as the first-line genetic test for CS. Methods We retrospectively collected the molecular data of 416 CS patients in the Deciphering disorders Involving Scoliosis and COmorbidities (DISCO) study. A decision tree was constructed to estimate the cost and the diagnostic time required for the two alternative strategies (TACScore versus WES). Bootstrapping simulations and sensitivity analyses were performed to examine the distributions and robustness of the estimates. The economic evaluation considered both the health care payer and the personal budget perspectives. Results From the health care payer perspective, the strategy of using the TACScore as the primary screening method resulted in an average cost of $1074.2 (95%CI: $1044.8 to $1103.5) and an average diagnostic duration of 38.7d (95%CI: 37.8d to 39.6d) to obtain a molecular diagnosis for each patient. In contrast, the corresponding values were $1169.6 (95%CI: $1166.9 to $1172.2) and 41.4d (95%CI: 41.1d to 41.7d) taking WES as the first-line test ( P 〈 0.001). From the personal budget perspective, patients who were predicted to be positive by the TACScore received a result with an average cost of $715.1 (95%CI: $594.5 to $835.7) and an average diagnostic duration of 30.4d (95%CI: 26.3d to 34.6d). Comparatively, the strategy of WES as the first-line test was estimated to have significantly longer diagnostic time with an average of 44.0d (95%CI: 43.2d to 44.9d), and more expensive with an average of $1193.4 (95%CI: $1185.5 to $1201.3) ( P 〈 0.001). In 100% of the bootstrapping simulations, the TACScore strategy was significantly less costly and more time-saving than WES. The sensitivity analyses revealed that the TACScore strategy remained cost-effective even when the cost per WES decreased to $8.8. Conclusions This retrospective study provides clinicians with economic evidence to integrate the TACScore into clinical practice. The TACScore can be considered a cost-effective tool when it serves as a screening test prior to performing WES.

Type of Medium: Online Resource

ISSN: 1750-1172

URL: Article

DOI: 10.1186/s13023-020-01537-y

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2020

detail.hit.zdb_id: 2225857-7

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Identification of novel FBN1 variations implicated in congenital scoliosis

Lin, Mao ; Zhao, Sen ; Liu, Gang ; [et al.]

Springer Science and Business Media LLC ; 2020

In: Journal of Human Genetics Vol. 65, No. 3 ( 2020-03), p. 221-230

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In: Journal of Human Genetics, Springer Science and Business Media LLC, Vol. 65, No. 3 ( 2020-03), p. 221-230

Abstract: Congenital scoliosis (CS) is a form of scoliosis caused by congenital vertebral malformations. Genetic predisposition has been demonstrated in CS. We previously reported that TBX6 loss-of-function causes CS in a compound heterozygous model; however, this model can explain only 10% of CS. Many monogenic and polygenic CS genes remain to be elucidated. In this study, we analyzed exome sequencing (ES) data of 615 Chinese CS from the Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) project. Cosegregation studies for 103 familial CS identified a novel heterozygous nonsense variant, c.2649G 〉 A (p.Trp883Ter) in FBN1 . The association between FBN1 and CS was then analyzed by extracting FBN1 variants from ES data of 574 sporadic CS and 828 controls; 30 novel variants were identified and prioritized for further analyses. A mutational burden test showed that the deleterious FBN1 variants were significantly enriched in CS subjects (OR = 3.9, P = 0.03 by Fisher’s exact test). One missense variant, c.2613A 〉 C (p.Leu871Phe) was recurrent in two unrelated CS subjects, and in vitro functional experiments for the variant suggest that FBN1 may contribute to CS by upregulating the transforming growth factor beta (TGF-β) signaling. Our study expanded the phenotypic spectrum of FBN1 , and provided nove insights into the genetic etiology of CS.

Type of Medium: Online Resource

ISSN: 1434-5161 , 1435-232X

URL: Article

DOI: 10.1038/s10038-019-0698-x

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2020

detail.hit.zdb_id: 1478797-0

SSG: 12

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Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome

Chen, Na ; Zhao, Sen ; Jolly, Angad ; [et al.]

Elsevier BV ; 2021

In: The American Journal of Human Genetics Vol. 108, No. 2 ( 2021-02), p. 337-345

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 108, No. 2 ( 2021-02), p. 337-345

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2020.12.014

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 1473813-2

SSG: 12

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Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients

Lin, Defu ; Du, Huakang ; Zhao, Sen ; [et al.]

Springer Science and Business Media LLC ; 2022

In: Orphanet Journal of Rare Diseases Vol. 17, No. 1 ( 2022-12)

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In: Orphanet Journal of Rare Diseases, Springer Science and Business Media LLC, Vol. 17, No. 1 ( 2022-12)

Abstract: Hypospadias is a congenital anomaly of the male urogenital system. Genetics factors play an important role in its pathogenesis. To search for potential causal genes/variants for hypospadias, we performed exome sequencing in a pedigree with three patients across two generations and a cohort of 49 sporadic patients with hypospadias. Results A novel BRAF variant (NM_004333.6: c.362C 〉 A) was found to co-segregate with the hypospadias phenotype in the disease pedigree. In cells overexpressing the BRAF mutant, the phosphorylation level of p38 MAPK was significantly increased as compared with the cells overexpressing the wild-type BRAF or RASopathy-related BRAF mutant. This variant further led to a reduced transcription level of the SRY gene, which is essential for the normal development of the male reproductive system. In the cohort of sporadic patients, we identified two additional variants in p38 MAPK signaling-related genes ( TRIM67 and DAB2IP ) potentially associated with hypospadias. Conclusion Our study expands the phenotypic spectrum of variants affecting p38 MAPK signaling toward the involvement of hypospadias.

Type of Medium: Online Resource

ISSN: 1750-1172

URL: Article

DOI: 10.1186/s13023-022-02334-5

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2022

detail.hit.zdb_id: 2225857-7

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“Fatty” or “steatotic”: position statement from a linguistic perspective by the Chinese-speaking community

Miao, Lei ; Ye, Shu-Mian ; Zheng, Ming-Hua ; [et al.]

Elsevier BV ; 2024

In: Journal of Hepatology ( 2024-5)

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In: Journal of Hepatology, Elsevier BV, ( 2024-5)

Type of Medium: Online Resource

ISSN: 0168-8278

URL: Article

DOI: 10.1016/j.jhep.2024.05.031

Language: English

Publisher: Elsevier BV

Publication Date: 2024

detail.hit.zdb_id: 2027112-8

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TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

Liu, Jiaqi ; Wu, Nan ; Yang, Nan ; [et al.]

Elsevier BV ; 2019

In: Genetics in Medicine Vol. 21, No. 7 ( 2019-07), p. 1548-1558

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In: Genetics in Medicine, Elsevier BV, Vol. 21, No. 7 ( 2019-07), p. 1548-1558

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1038/s41436-018-0377-x

Language: English

Publisher: Elsevier BV

Publication Date: 2019

detail.hit.zdb_id: 2063504-7

SSG: 12

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Radiation Dose Detection on FY-4B Satellite

Sun, Ying ; Zhang, Binquan ; Zhang, Xiaoxin ; [et al.]

MDPI AG ; 2023

In: Aerospace Vol. 10, No. 4 ( 2023-03-24), p. 325-

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In: Aerospace, MDPI AG, Vol. 10, No. 4 ( 2023-03-24), p. 325-

Abstract: The radiation damage effect is relatively serious during spacecraft operation in orbit. To know the real cumulative dose in orbit accurately, a radiation dose detector is carried on the FY-4B satellite. It comprises one electric control unit and three dose detectors, with a total of four payloads. Each dose detector includes five dose-monitoring points corresponding to different shielding thicknesses, which are mainly used for the measurement of the dose depth. Three dose detectors with the same function are installed in the X, Y and Z positions and can detect the total dose in different directions during the operation of the satellite. Each detector has the characteristics of small size, high integration and low power consumption. At present, the FY-4B satellite is in orbit. The detectors have been working normally since they were started up, and good preliminary detection results have been obtained. From the power-up of the detectors to April 2022, the maximum dose has reached 2.7 × 103 rad(Si). We conducted a preliminary analysis of the relationship between total dose and shielding thickness. In addition, the relationship between daily average dose and shielding thickness was further analyzed. These studies have application value for radiation protection design.

Type of Medium: Online Resource

ISSN: 2226-4310

URL: Article

DOI: 10.3390/aerospace10040325

Language: English

Publisher: MDPI AG

Publication Date: 2023

detail.hit.zdb_id: 2756091-0

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Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)

Zhao, Sen ; Zhang, Yuanqiang ; Chen, Weisheng ; [et al.]

BMJ ; 2021

In: Journal of Medical Genetics Vol. 58, No. 1 ( 2021-01), p. 41-47

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In: Journal of Medical Genetics, BMJ, Vol. 58, No. 1 ( 2021-01), p. 41-47

Abstract: Early-onset scoliosis (EOS), defined by an onset age of scoliosis less than 10 years, conveys significant health risk to affected children. Identification of the molecular aetiology underlying patients with EOS could provide valuable information for both clinical management and prenatal screening. Methods In this study, we consecutively recruited a cohort of 447 Chinese patients with operative EOS. We performed exome sequencing (ES) screening on these individuals and their available family members (totaling 670 subjects). Another cohort of 13 patients with idiopathic early-onset scoliosis (IEOS) from the USA who underwent ES was also recruited. Results After ES data processing and variant interpretation, we detected molecular diagnostic variants in 92 out of 447 (20.6%) Chinese patients with EOS, including 8 patients with molecular confirmation of their clinical diagnosis and 84 patients with molecular diagnoses of previously unrecognised diseases underlying scoliosis. One out of 13 patients with IEOS from the US cohort was molecularly diagnosed. The age at presentation, the number of organ systems involved and the Cobb angle were the three top features predictive of a molecular diagnosis. Conclusion ES enabled the molecular diagnosis/classification of patients with EOS. Specific clinical features/feature pairs are able to indicate the likelihood of gaining a molecular diagnosis through ES.

Type of Medium: Online Resource

ISSN: 0022-2593 , 1468-6244

URL: Article

DOI: 10.1136/jmedgenet-2019-106823

RVK:

WA 15000

Language: English

Publisher: BMJ

Publication Date: 2021

detail.hit.zdb_id: 2009590-9

SSG: 12

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Design Spaceborne of Radiation Dosimeter in Depth

SUN Ying ; ZHANG Binquan ; ZHANG Xiaoxin ; [et al.]

National Space Science Center, Chinese Academy of Sciences ; 2021

In: Chinese Journal of Space Science Vol. 41, No. 5 ( 2021), p. 793-

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In: Chinese Journal of Space Science, National Space Science Center, Chinese Academy of Sciences, Vol. 41, No. 5 ( 2021), p. 793-

Type of Medium: Online Resource

ISSN: 0254-6124 , 0254-6124

URL: Article

DOI: 10.11728/cjss2021.05.793

Language: Unknown

Publisher: National Space Science Center, Chinese Academy of Sciences

Publication Date: 2021

SSG: 16,12

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