Publication catalog

Biomedical publications with connected research

Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.

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Publications

Page 9304 of 10600

IL7RA rs10491434 polymorphism is related to spontaneous HIV infection control in naïve HIV-infected patients: A retrospective study.
Journal of medical virology | 2023-11-01 | PMID 37927108
Sepúlveda-Crespo Daniel, Jiménez-Sousa María A, Fernández-Rodíguez Amanda and 10 more
Observational and genetic associations of adiposity with cardiopulmonary multimorbidity: Linear and nonlinear Mendelian randomization analysis.
Obesity (Silver Spring, Md.) | 2024-02-01 | PMID 37927163
Song Zimin, Wang Wenxiu, Zhao Yimin and 5 more
A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review.
CNS neuroscience & therapeutics | 2024-03-01 | PMID 37927170
Xuan Xianjun, Ruan Jie, Wu Chunhong and 3 more
Clinical relevance of the TECTA c.6183G>T variant identified in a family with autosomal dominant hearing loss: a case report.
Croatian medical journal | 2023-10-31 | PMID 37927186
Sansović Ivona, Meašić Ana-Maria, Odak Ljubica and 1 more
Neurodevelopmental disorder caused by an inherited novel KMT5B variant: case report.
Croatian medical journal | 2023-10-31 | PMID 37927187
Odak Ljubica, Vulin Katarina, Meašić Ana-Maria and 2 more
The first case report of distal 16p12.1p11.2 trisomy and proximal 16p11.2 tetrasomy inherited from both parents.
Croatian medical journal | 2023-10-31 | PMID 37927188
Morožin Pohovski Leona, Sansović Ivona, Vulin Katarina and 1 more
A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance.
American journal of medical genetics. Part A | 2024-03-01 | PMID 37927245
Darouich Sihem, Darouich Samia
Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand.
Journal of neuromuscular diseases | 2024-01-01 | PMID 37927275
Kulsirichawaroj Pimchanok, Suksangkharn Yanin, Nam Da Eun and 6 more
Management of breast cancer patients with BRCA gene mutations in Jordan: perspectives and challenges.
Hospital practice (1995) | 2023-10-01 | PMID 37927299
Abdel-Razeq Hikmat, Abbasi Salah, Abdeen Ghadeer and 5 more
The recombinant BMP-2 loaded silk fibroin microspheres improved the bone phenotype of mild osteogenesis imperfecta mice.
PeerJ | 2023-01-01 | PMID 37927786
Fu Ting, Liu Yi, Wang Zihan and 5 more
Significant variation of filamentation phenotypes in clinical Candida albicans strains.
Frontiers in cellular and infection microbiology | 2023-01-01 | PMID 37928181
Brandquist Nichole D, Lampman Cierra, Smith Elias J and 4 more
Persistent ciprofloxacin exposure induced the transformation of Klebsiella pneumoniae small colony variant into mucous phenotype.
Frontiers in cellular and infection microbiology | 2023-01-01 | PMID 37928182
Zou Hua, Li Qian, Su Yan and 3 more
Detection of macrolide and fluoroquinolone resistance-associated 23S rRNA and parC mutations in Mycoplasma genitalium by nested real-time PCR.
Frontiers in cellular and infection microbiology | 2023-01-01 | PMID 37928183
He Wenyin, Yuan Ying, Liang Junyu and 3 more
Implications of combined NOD2 and other gene mutations in autoinflammatory diseases.
Frontiers in immunology | 2023-01-01 | PMID 37928541
Nomani Hafsa, Deng Zuoming, Navetta-Modrov Brianne and 6 more
Immune-mediated cholangiopathies in children: the need to better understand the pathophysiology for finding the future possible treatment targets.
Frontiers in immunology | 2023-01-01 | PMID 37928553
Grama Alina, Mititelu Alexandra, Sîrbe Claudia and 2 more
Analysis of Airway Thickening and Serum Cytokines in COPD Patients with Frequent Exacerbations: A Heart of the Matter.
International journal of chronic obstructive pulmonary disease | 2023-01-01 | PMID 37928768
Lin Yiqi, Sang Li, Wang Jiahe and 9 more
Single nucleotide polymorphisms in vitamin D binding protein and 25-hydroxylase genes affect vitamin D levels in adolescents of Arab ethnicity in Kuwait.
Frontiers in endocrinology | 2023-01-01 | PMID 37929021
Rahman Abdur, Abu-Farha Mohamed, Channanath Arshad and 7 more
Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes.
Frontiers in endocrinology | 2023-01-01 | PMID 37929041
Paduano Francesco, Fischetto Rita, Moretti Biagio and 2 more
Genotype-environment interplay in associations between maternal drinking and offspring emotional and behavioral problems.
Psychological medicine | 2024-01-01 | PMID 37929303
Hannigan Laurie John, Lund Ingunn Olea, Dahl Askelund Adrian and 4 more
Characterization of CYP2C19 pharmacogenetic variation in African populations and comparison with other global populations.
Pharmacogenomics | 2023-11-01 | PMID 37929326
Booyse Ross P, Twesigomwe David, Hazelhurst Scott
Heavy metals and genetic variations in folate metabolism pathway: A gene-environment interaction.
Indian journal of public health | 2000-01-01 | PMID 37929396
Kaur Amandeep, Jairath Mohan, Kaur Anupam
Characterisation of Patients with SH3TC2 Associated Neuropathy in an Indian Cohort.
Neurology India | 2000-01-01 | PMID 37929431
Nagappa Madhu, Sharma Shivani, Govindaraj Periyasamy and 8 more
A Novel Neuroimaging Phenotype in the X-Linked Intellectual Disability with a Missense Mutation of CNKSR2 Gene.
Neurology India | 2000-01-01 | PMID 37929438
Hosur Bharat, Sinha Rahul, Jain Narendra K and 4 more
Is the BNT162b2 vaccine still effective against the latest variant: XBB.1.5?
Nigerian journal of clinical practice | 2023-10-01 | PMID 37929529
Erdag Emine, Sultanoglu Nazife, Ozverel Cenk S
Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.
Circulation | 2024-01-09 | PMID 37929589
Topriceanu Constantin-Cristian, Pereira Alexandre C, Moon James C and 2 more
New risk factors and molecular landscapes of hepatic angiosarcoma in the Taiwanese population†.
The Journal of pathology | 2024-01-01 | PMID 37929656
Chung Felicia, Zavadil Jiri
EARLY FLOWERING is a dominant gain-of-function allele of FANTASTIC FOUR 1/2c that promotes early flowering in tomato.
Plant biotechnology journal | 2024-03-01 | PMID 37929693
Zhang Dedi, Ai Guo, Ji Kangna and 13 more
Genes: FAF1
[The rs7139228 polymorphism is located in the DCN gene and not in the RETN gene].
Nutricion hospitalaria | 2023-12-14 | PMID 37929836
Flores Sergio V, Roco-Videla Ángel, Olguín-Barraza Mariela and 1 more
Association between the genetic variant in the vitamin D pathway (rs2282679), circulating 25-hydroxyvitamin D levels, insulin resistance and metabolic syndrome criteria.
Nutricion hospitalaria | 2023-12-14 | PMID 37929856
de Luis Román Daniel, Izaola Olatz, Primo Martín David and 3 more
Association of rs3138167 polymorphism with metabolic response after a hypocaloric Mediterranean diet.
Nutricion hospitalaria | 2024-04-26 | PMID 37929859
de Luis Román Daniel, Primo Martín David, Izaola Jáuregui Olatz
A paper-embedded thermoplastic microdevice integrating additive-enhanced allele-specific amplification and silver nanoparticle-based colorimetric detection for point-of-care testing.
Lab on a chip | 2023-12-05 | PMID 37929914
Thai Duc Anh, Park Seung Kyun, Lee Nae Yoon
Dynamic analysis of circulating tumor DNA to predict the prognosis and monitor the treatment response of patients with metastatic triple-negative breast cancer: A prospective study.
eLife | 2023-11-06 | PMID 37929934
Chi Yajing, Su Mu, Zhou Dongdong and 11 more
SARS-CoV-2 NSP12 associates with TRiC and the P323L substitution acts as a host adaption.
Journal of virology | 2023-11-30 | PMID 37929963
Alruwaili Muhannad, Armstrong Stuart, Prince Tessa and 6 more
Automated and reproducible cell identification in mass cytometry using neural networks.
Briefings in bioinformatics | 2023-09-22 | PMID 37930029
Saihi Hajar, Bessant Conrad, Alazawi William
Impact of different CRPS phenotypes and diagnostic criteria on quantitative sensory testing outcomes: systematic review and meta-analysis.
Pain medicine (Malden, Mass.) | 2024-03-01 | PMID 37930043
Sobeeh Mohamed Gomaa, Hassan Karima Abdelaty, Silva Anabela G and 1 more
The genetic basis of traits associated with the evolution of serpentine endemism in monkeyflowers.
Evolution; international journal of organic evolution | 2024-01-04 | PMID 37930045
Toll Katherine, Willis John H
Genes: F2
Associations of Serum Total Homocysteine Levels with Various Demographic, Clinical and Genetic Characteristics in Healthy Greek Adults.
Acta medica (Hradec Kralove) | 2023-01-01 | PMID 37930095
Mazokopakis Elias E, Papadomanolaki Maria G, Papadakis John A
Height of non-Hispanic white adults with homeostatic iron regulator HFE genotypes p.C282Y/p.C282Y and wt/wt.
Molecular genetics & genomic medicine | 2024-01-01 | PMID 37930135
Barton James C, Barton J Clayborn, Acton Ronald T
Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.
Human molecular genetics | 2024-08-06 | PMID 37930186
Burnight Erin R, Fenner Beau J, Han Ian C and 8 more
Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.
Cancer medicine | 2023-12-01 | PMID 37930190
Wei Bing, Zhao Jiadong, Li Jun and 9 more
Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy.
Human molecular genetics | 2024-01-20 | PMID 37930228
Endo Yukari, Groom Linda, Wang Sabrina M and 7 more
Allele-dependent expression and functionality of lipid enzyme phospholipid:diacylglycerol acyltransferase affect diatom carbon storage and growth.
Plant physiology | 2024-01-31 | PMID 37930282
Pan Yufang, Zhang Wanting, Wang Xiaofei and 5 more
Human left ventricular cardiac fibroblasts undergo a dynamic shift in secretome and gene expression toward a cardiac myofibroblast phenotype during early passage in typical culture expansion conditions.
Cytotherapy | 2024-01-01 | PMID 37930292
Schmuck Eric G, Roy Sushmita, Zhou Tianhua and 4 more
Development of mitochondrial gene-editing strategies and their potential applications in mitochondrial hereditary diseases: a review.
Cytotherapy | 2024-01-01 | PMID 37930294
Gao Yanyan, Guo Linlin, Wang Fei and 3 more
Robust production of monovalent bispecific IgG antibodies through novel electrostatic steering mutations at the CH1-Cλ interface.
mAbs | 2000-01-01 | PMID 37930310
Bagert John D, Oganesyan Vaheh, Chiang Chi-I and 20 more
Models of care and the advanced practice nurse role in caring for children and adolescents with a cancer predisposition syndrome: a scoping review protocol.
JBI evidence synthesis | 2024-05-01 | PMID 37930416
Grant Andrew M, Signorelli Christina, Taylor Natalie and 3 more
Improving yield-related traits by editing the promoter of the heading date gene Ehd1 in rice.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2023-11-06 | PMID 37930441
Li Shengting, Luo Yanqiu, Wei Guangliang and 15 more
An epi-allele of SMS causes Sanming dominant genic male sterility in rice.
Science China. Life sciences | 2023-12-01 | PMID 37930474
Yang Yachun, Zhang Cheng, Li Hao and 8 more
Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis.
Journal of neurology | 2024-03-01 | PMID 37930481
Domi Teuta, Schito Paride, Sferruzza Giacomo and 8 more
A novel immune checkpoint-related signature for prognosis and immune analysis in breast cancer.
Clinical and experimental medicine | 2023-12-01 | PMID 37930605
Hu Haihong, Yan Ting, Zhu Hongxia and 6 more
ApoE4 and Connectivity-Mediated Spreading of Tau Pathology at Lower Amyloid Levels.
JAMA neurology | 2023-12-01 | PMID 37930695
Steward Anna, Biel Davina, Dewenter Anna and 11 more
APOE Genotype and Alzheimer Disease Risk Across Age, Sex, and Population Ancestry.
JAMA neurology | 2023-12-01 | PMID 37930705
Belloy Michael E, Andrews Shea J, Le Guen Yann and 4 more
Diverse mobile genetic elements shaped the evolution of Streptomyces virulence.
Microbial genomics | 2023-11-01 | PMID 37930748
Weisberg Alexandra J, Pearce Emma, Kramer Charles G and 2 more
Novel association between single-nucleotide polymorphisms of IKKβ at rs17875746 and rs12676482 and periodontitis.
Dental and medical problems | 2000-01-01 | PMID 37930783
Mahmood Athraa Ali, Abbas Raghad Fadhil, Hussein Hashim Mueen
MiRiQ Database: A Platform for In Silico Rice Mutant Screening.
Plant & cell physiology | 2024-01-19 | PMID 37930817
Kubo Takahiko, Yamagata Yoshiyuki, Matsusaka Hiroaki and 3 more
OPIA: an open archive of plant images and related phenotypic traits.
Nucleic acids research | 2024-01-05 | PMID 37930849
Cao Yongrong, Tian Dongmei, Tang Zhixin and 4 more
Genetic variations in G-quadruplex forming sequences affect the transcription of human disease-related genes.
Nucleic acids research | 2023-12-11 | PMID 37930868
Lorenzatti Agustín, Piga Ernesto J, Gismondi Mauro and 4 more
Association between de novo variants of nuclear-encoded mitochondrial-related genes and undiagnosed developmental disorder and autism.
QJM : monthly journal of the Association of Physicians | 2024-04-12 | PMID 37930872
Luo T, Pan J, Zhu Y and 7 more
Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.
Bioinformatics (Oxford, England) | 2023-11-01 | PMID 37930895
Shuey Megan M, Stead William W, Aka Ida and 24 more
Autoimmune anti-D in an RhD-positive young infant: Learning from a rare case.
Vox sanguinis | 2024-01-01 | PMID 37930933
Malhotra Sheetal, Roy Manisha, Parchure Disha and 5 more
Hepatic macrophages play critical roles in the establishment and growth of hydatid cysts in the liver during Echinococcus granulosus sensu stricto infection.
PLoS neglected tropical diseases | 2023-11-01 | PMID 37930989
Wang Hui, Yu Qian, Wang Mingkun and 10 more
Genome instability footprint under rapamycin and hydroxyurea treatments.
PLoS genetics | 2023-11-01 | PMID 37931001
Li Jing, Stenberg Simon, Yue Jia-Xing and 4 more
Characterizing Speech Phenotype in Individuals With Craniofacial Microsomia: A Scoping Review.
American journal of speech-language pathology | 2024-01-03 | PMID 37931079
Kinter Sara, Kotlarek Katelyn, Meehan Anna and 1 more
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Proceedings of the National Academy of Sciences of the United States of America | 2023-11-14 | PMID 37931111
Zhang Peng, Chaldebas Matthieu, Ogishi Masato and 17 more
Indications for Systemic and Genetic Testing in Patients with Congenital Cataracts.
Journal of binocular vision and ocular motility | 2023-10-02 | PMID 37931120
Amine Reem, Traboulsi Elias I
Genomic diversity of Vibrio spp. and metagenomic analysis of pathogens in Florida Gulf coastal waters following Hurricane Ian.
mBio | 2023-12-19 | PMID 37931127
Brumfield Kyle D, Usmani Moiz, Santiago Sanneri and 10 more
Breeding and Selecting Corals Resilient to Global Warming.
Annual review of animal biosciences | 2024-02-15 | PMID 37931139
Quigley K M
Evolutionary "Crowdsourcing": Alignment of Fitness Landscapes Allows for Cross-species Adaptation of a Horizontally Transferred Gene.
Molecular biology and evolution | 2023-11-03 | PMID 37931146
Kosterlitz Olivia, Grassi Nathan, Werner Bailey and 3 more
High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes.
The Journal of clinical endocrinology and metabolism | 2024-02-20 | PMID 37931151
Menon Jayakrishnan C, Singh Pratibha, Archana Archana and 14 more
Genes: WFS1, ABCC8, HNF4A, PTF1A
Deleterious and Adaptive Mutations in Plant Germplasm Conserved Ex Situ.
Molecular biology and evolution | 2023-12-01 | PMID 37931158
Fu Yong-Bi, Peterson Gregory W, Horbach Carolee
Causes and consequences of clonal hematopoiesis.
Blood | 2023-12-28 | PMID 37931207
Weeks Lachelle D, Ebert Benjamin L
TCR Pathway Mutations in Mature T Cell Lymphomas.
Journal of immunology (Baltimore, Md. : 1950) | 2023-11-15 | PMID 37931208
Zhang Yue, Cheng Kathleen, Choi Jaehyuk
Influence of the genotype of the hen (Gallus gallus domesticus) on main parameters of egg quality, chemical composition of the eggs under uniform environmental conditions.
Poultry science | 2024-01-01 | PMID 37931396
Hejdysz M, Nowaczewski S, Perz K and 8 more
Generation of an induced pluripotent stem cell line (SHETi004-A) from a Chinese Han child with left bundle branch block.
Stem cell research | 2023-12-01 | PMID 37931536
Wang Tingxia, Hou Shan, Chen Juan and 4 more
Somatic mutation burden in relation to aging and functional life span: implications for cellular reprogramming and rejuvenation.
Current opinion in genetics & development | 2023-12-01 | PMID 37931583
Maslov Alexander Y, Vijg Jan
Comparative Analysis of Driver Mutations and Transcriptomes in Papillary Thyroid Cancer by Region of Residence in South Korea.
Endocrinology and metabolism (Seoul, Korea) | 2023-12-01 | PMID 37931624
Lee Jandee, Jeong Seonhyang, Lee Hwa Young and 3 more
Genetic predisposition to gastrointestinal polyposis: syndromes, tumour features, genetic testing, and clinical management.
The lancet. Gastroenterology & hepatology | 2024-01-01 | PMID 37931640
Valle Laura, Monahan Kevin J
Osteosarcomas With Few Chromosomal Alterations or Adult Onset Are Genetically Heterogeneous.
Laboratory investigation; a journal of technical methods and pathology | 2024-01-01 | PMID 37931683
Difilippo Valeria, Saba Karim H, Styring Emelie and 5 more
Predicting virus Fitness: Towards a structure-based computational model.
Journal of structural biology | 2023-12-01 | PMID 37931730
Thakur Shivani, Planeta Kepp Kasper, Mehra Rukmankesh
A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus | 2023-12-01 | PMID 37931836
Sim Bryan, Ng Janice Wan Zhen, Sim Donald Yuhui and 12 more
A GCC repeat in RAB26 undergoes natural selection in human and harbors divergent genotypes in late-onset Alzheimer's disease.
Gene | 2024-01-30 | PMID 37931854
Alizadeh S, Khamse S, Tajeddin N and 3 more
Therapeutic targets for endometriosis: Genome-wide Mendelian randomization and colocalization analyses.
Gene | 2024-01-30 | PMID 37931855
Zeng Pengfei, Lu Liyue, Zhang Hanxiao and 4 more
Immunosuppressive low-density neutrophils in the blood of cancer patients display a mature phenotype.
Life science alliance | 2024-01-01 | PMID 37931958
Vanhaver Christophe, Aboubakar Nana Frank, Delhez Nicolas and 8 more
Synchronous T-lymphoblastic lymphoma and neuroblastoma in a 3-yr-old with novel germline SMARCA4 and EZH2 variants.
Cold Spring Harbor molecular case studies | 2023-12-01 | PMID 37932047
Tibout Pauline, Livingston Joel, Kanwar Nisha and 8 more
Protein Containing the GGDEF Domain Affects Motility and Biofilm Formation in Vibrio cholerae and is Negatively Regulated by Fur and HapR.
Biomedical and environmental sciences : BES | 2023-10-20 | PMID 37932063
Gao He, Ma Li Zhi, Qin Qin and 4 more
Sex Genotyping Mice by Polymerase Chain Reaction.
Cold Spring Harbor protocols | 2024-01-02 | PMID 37932078
Papaioannou Virginia E, Behringer Richard R
Establishing Control Frequency of Embryonic and Fetal Loss in a Mutant Mouse Colony.
Cold Spring Harbor protocols | 2024-01-02 | PMID 37932079
Papaioannou Virginia E, Behringer Richard R
Special Breeding Techniques for Use in Mouse Mutation Analysis.
Cold Spring Harbor protocols | 2024-01-02 | PMID 37932080
Papaioannou Virginia E, Behringer Richard R
Analysis of Mid- to Late-Gestation Phenotypes in Mice.
Cold Spring Harbor protocols | 2024-01-02 | PMID 37932082
Papaioannou Virginia E, Behringer Richard R
Getting around an Early Lethal Phenotype in Mice with Chimeras.
Cold Spring Harbor protocols | 2024-01-02 | PMID 37932083
Papaioannou Virginia E, Behringer Richard R
Uncovering Phenotypes in Mutant Mice by Determining Embryo, Organ, Tissue, and Cell Developmental Potential.
Cold Spring Harbor protocols | 2024-01-02 | PMID 37932085
Papaioannou Virginia E, Behringer Richard R
Strategies for Maintaining Mouse Mutations.
Cold Spring Harbor protocols | 2024-01-02 | PMID 37932086
Papaioannou Virginia E, Behringer Richard R
Phenotypic Analysis of Dominant Mutant Effects in Mice.
Cold Spring Harbor protocols | 2024-01-02 | PMID 37932089
Papaioannou Virginia E, Behringer Richard R
Isolation of XO Subclones from XY Murine Embryonic Stem Cells.
Cold Spring Harbor protocols | 2024-01-02 | PMID 37932090
Papaioannou Virginia E, Behringer Richard R
Recovering a Targeted Mutation in Mice from Embryonic Stem Cell Chimeras or CRISPR-Cas Founders.
Cold Spring Harbor protocols | 2024-01-02 | PMID 37932094
Papaioannou Virginia E, Behringer Richard R
Phenotypic Analysis: Assessing Timing of Recessive Prenatal Lethality in Mice.
Cold Spring Harbor protocols | 2024-01-02 | PMID 37932095
Papaioannou Virginia E, Behringer Richard R
Analysis of Postnatal Mutant Phenotypes in Mice.
Cold Spring Harbor protocols | 2024-01-02 | PMID 37932096
Papaioannou Virginia E, Behringer Richard R
The "No Phenotype" Challenge in Analyzing Mutant Mice.
Cold Spring Harbor protocols | 2024-01-02 | PMID 37932097
Papaioannou Virginia E, Behringer Richard R
Backcrossing to Generate a Congenic Mouse Strain.
Cold Spring Harbor protocols | 2024-01-02 | PMID 37932101
Papaioannou Virginia E, Behringer Richard R
An Effective and Universal Long-Read Sequencing-Based Approach for SMN1 2 + 0 Carrier Screening through Family Trio Analysis.
Clinical chemistry | 2023-11-02 | PMID 37932106
Li Shuyuan, Han Xu, Zhang Liang and 7 more