Biomedical publications with connected research

Genetic screening of TGFBI in Iranian patients with TGFBI-associated corneal dystrophies and a meta-analysis of global variation frequencies.

Ophthalmic genetics | 2022-08-01 | PMID 35473478

Jozaei Roxanne, Javadi Mohammad-Ali, Safari Iman and 8 more

Integrating BRAFV600E mutation, ultrasonic and clinicopathologic characteristics for predicting the risk of cervical central lymph node metastasis in papillary thyroid carcinoma.

BMC cancer | 2022-04-27 | PMID 35473554

Zhang Zheng, Zhang Xin, Yin Yifei and 5 more

Network- and enrichment-based inference of phenotypes and targets from large-scale disease maps.

NPJ systems biology and applications | 2022-04-26 | PMID 35473910

Hoch Matti, Smita Suchi, Cesnulevicius Konstantin and 4 more

Use of elexacaftor/tezacaftor/ivacaftor among cystic fibrosis lung transplant recipients.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2022-09-01 | PMID 35474016

Ramos Kathleen J, Guimbellot Jennifer S, Valapour Maryam and 6 more

SNP markers identification by genome wide association study for chemical quality traits of coffee (Coffea spp.) Germplasm.

Molecular biology reports | 2022-06-01 | PMID 35474051

José Luis Spinoso-Castillo, Paulino Pérez-Rodríguez, Bello-Bello Jericó Jabín and 5 more

Whole-genome sequences of 37 breeding line Bombyx mori strains and their phenotypes established since 1960s.

Scientific data | 2022-04-26 | PMID 35474080

Kim Seong-Wan, Kim Min Jee, Kim Seong-Ryul and 5 more

Mechanisms of enhanced aggregation and fibril formation of Parkinson's disease-related variants of α-synuclein.

Scientific reports | 2022-04-26 | PMID 35474118

Ohgita Takashi, Namba Norihiro, Kono Hiroki and 2 more

Patterns of selection across gene regulatory networks.

Seminars in cell & developmental biology | 2023-08-01 | PMID 35474149

McDonald Jeanne M C, Reed Robert D

Tracking SARS-CoV-2 Omicron diverse spike gene mutations identifies multiple inter-variant recombination events.

Signal transduction and targeted therapy | 2022-04-26 | PMID 35474215

Ou Junxian, Lan Wendong, Wu Xiaowei and 11 more

Morphological and molecular characterization of some pumpkin (Cucurbita pepo L.) genotypes collected from Erzincan province of Turkey.

Scientific reports | 2022-04-26 | PMID 35474245

Öztürk Halil İbrahim, Dönderalp Veysel, Bulut Hüseyin and 1 more

APOL1 Kidney Risk Variants and Proteomics.

Clinical journal of the American Society of Nephrology : CJASN | 2022-05-01 | PMID 35474272

Chen Teresa K, Surapaneni Aditya L, Arking Dan E and 9 more

Genes: APOL1, APOL2, CLSTN2, SPOCK2

Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes.

European journal of human genetics : EJHG | 2022-08-01 | PMID 35474353

Breuer Katinka, Riedhammer Korbinian M, Müller Nicole and 13 more

ExPheWas: a platform for cis-Mendelian randomization and gene-based association scans.

Nucleic acids research | 2022-07-05 | PMID 35474380

Legault Marc-André, Perreault Louis-Philippe Lemieux, Tardif Jean-Claude and 1 more

SETDB1 fuels the lung cancer phenotype by modulating epigenome, 3D genome organization and chromatin mechanical properties.

Nucleic acids research | 2022-05-06 | PMID 35474385

Zakharova Vlada V, Magnitov Mikhail D, Del Maestro Laurence and 12 more

Maternal and Fetal Genetic Variation in Vitamin D Metabolism and Umbilical Cord Blood 25-Hydroxyvitamin D.

The Journal of clinical endocrinology and metabolism | 2022-07-14 | PMID 35474389

Moon Rebecca J, Cooke Laura D F, D'Angelo Stefania and 8 more

Gene-SCOUT: identifying genes with similar continuous trait fingerprints from phenome-wide association analyses.

Nucleic acids research | 2022-05-06 | PMID 35474393

Middleton Lawrence, Harper Andrew R, Nag Abhishek and 4 more

Hypothalamic-pituitary-adrenal Axis Multilocus Genetic Variation, Childhood Parenting and Adolescent Anxiety Symptoms: Evidence of Cumulative Polygenic Plasticity.

Journal of youth and adolescence | 2022-08-01 | PMID 35474403

Cao Cong, Yang Shan, Sun Kexin and 1 more

Effects of gibberellin applications before flowering on the phenotype, ripening, and flavonoid compounds of Syrah grape berries.

Journal of the science of food and agriculture | 2022-10-01 | PMID 35474458

Xie Sha, Liu Yunqi, Chen Huawei and 3 more

Nickel penetration into stratum corneum in FLG null carriers-A human experimental study.

Contact dermatitis | 2022-08-01 | PMID 35474514

Julander Anneli, Liljedahl Emelie Rietz, Korres de Paula Helena and 6 more

Performance of Idylla™ RAS-BRAF mutation test for formalin-fixed paraffin-embedded tissues of colorectal cancer.

International journal of clinical oncology | 2022-07-01 | PMID 35474548

Makutani Yusuke, Sakai Kazuko, Yamada Masahiro and 8 more

T-cell responses to SARS-CoV-2 Omicron spike epitopes with mutations after the third booster dose of an inactivated vaccine.

Journal of medical virology | 2022-08-01 | PMID 35474581

Li Yongzheng, Wang Xiuwen, Jin Junyan and 4 more

The solid variant of papillary thyroid carcinoma: a multi-institutional retrospective study.

Histopathology | 2022-08-01 | PMID 35474588

Xu Bin, Viswanathan Kartik, Zhang Lingxin and 5 more

Genes: BRAF

A minority of somatically mutated genes in pre-existing fatty liver disease have prognostic importance in the development of NAFLD.

Liver international : official journal of the International Association for the Study of the Liver | 2022-08-01 | PMID 35474605

Mann Jake P, Hoare Matthew

Genes: GPAM, ACVR2A, ALB, CIDEB, FOXO1

Systematic discovery and validation of T cell targets directed against oncogenic KRAS mutations.

Cell reports methods | 2021-09-27 | PMID 35474673

Choi Jaewon, Goulding Scott P, Conn Brandon P and 15 more

Advancing NGS quality control to enable measurement of actionable mutations in circulating tumor DNA.

Cell reports methods | 2021-11-22 | PMID 35475002

Willey James C, Morrison Tom B, Austermiller Bradley and 17 more

Assessment of the association between TNIP1 polymorphism with clinical features and risk of systemic lupus erythematosus.

Lupus | 2022-07-01 | PMID 35475371

Azhdari Sara, Saghi Mostafa, Alani Behrang and 7 more

Cardiac features of Noonan syndrome in Japanese patients.

Cardiology in the young | 2023-04-01 | PMID 35475426

Ichikawa Yasuhiro, Kuroda Hiroyuki, Ikegawa Takeshi and 7 more

Translocator protein (18 kDa) regulates the microglial phenotype in Parkinson's disease through P47.

Bioengineered | 2022-04-01 | PMID 35475466

Xue Xue, Duan Rui, Zheng Guoyan and 3 more

Insights into structure and activity relationship of clinically mutated PER1 and PER2 class A β-lactamase enzymes.

Journal of biomolecular structure & dynamics | 2023-07-01 | PMID 35475497

Agarwal Vidhu, Yadav Tara Chand, Tiwari Akhilesh and 1 more

Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.

Human mutation | 2022-09-01 | PMID 35475527

Ralph Douglas, Levine Michael A, Richard Gabriele and 4 more

Discovery of the novel HLA-C*08:22:02 allele in a Taiwanese individual.

HLA | 2022-08-01 | PMID 35475545

Yang Kuo-Liang, Li Chi-Cheng, Lin Py-Yu

Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.

Human mutation | 2022-09-01 | PMID 35475554

Chiorean Andreea, Farncombe Kirsten M, Delong Sean and 22 more

Atorvastatin regulates vascular smooth muscle cell phenotypic transformation by epigenetically modulating contractile proteins and mediating Akt/FOXO4 axis.

Molecular medicine reports | 2022-05-01 | PMID 35475577

Du Xinping, Sun Zhiyuan, Cao Zhongnan and 5 more

High-Throughput Flavor Analysis and Mapping of Flavor Alterations Induced by Different Genotypes of Mentha by Means of UHPLC-MS/MS.

Journal of agricultural and food chemistry | 2022-05-11 | PMID 35475602

Peters Verena Christina Tabea, Dunkel Andreas, Frank Oliver and 7 more

Cefotaxime Exposure Selects Mutations within the CA-Domain of envZ Which Promote Antibiotic Resistance but Repress Biofilm Formation in Salmonella.

Microbiology spectrum | 2022-06-29 | PMID 35475640

Trampari Eleftheria, Zhang Chuanzhen, Gotts Kathryn and 3 more

Comparative Genomics of Synechococcus elongatus Explains the Phenotypic Diversity of the Strains.

mBio | 2022-06-28 | PMID 35475644

Adomako Marie, Ernst Dustin, Simkovsky Ryan and 8 more

Impact of Micropolymorphism Outside the Peptide Binding Groove in the Clinically Relevant Allele HLA-C*14 on T Cell Responses in HIV-1 Infection.

Journal of virology | 2022-05-25 | PMID 35475667

Chikata Takayuki, Paes Wayne, Kuse Nozomi and 9 more

Characteristics of MYC Amplification and Their Association with Clinicopathological and Molecular Factors in Patients with Breast Cancer.

DNA and cell biology | 2022-05-01 | PMID 35475703

Cao Li, Ren Chongyang, Zhang Guochun and 11 more

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.

Investigative ophthalmology & visual science | 2022-04-01 | PMID 35475888

Corradi Zelia, Salameh Manar, Khan Mubeen and 14 more

A Preventive Role of RANTES Genetic Variation against Undifferentiated Schizophrenia.

Immunological investigations | 2022-08-01 | PMID 35476033

Saoud Hana, Ben Afia Amira, Aflouk Youssef and 2 more

A SAS code to estimate phenotypic-genotypic covariance and correlation matrices based on expected value of statistical designs to use in plant breeding.

Anais da Academia Brasileira de Ciencias | 2022-01-01 | PMID 35476060

Rahimi Mehdi, Hernandez Mateo V

CAH-X Syndrome: Genetic and Clinical Profile.

Molecular diagnosis & therapy | 2022-05-01 | PMID 35476220

Concolino Paola, Falhammar Henrik

Targeting IDH-Mutant Glioma.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics | 2022-10-01 | PMID 35476295

Miller Julie J

Allele-specific collateral and fitness effects determine the dynamics of fluoroquinolone resistance evolution.

Proceedings of the National Academy of Sciences of the United States of America | 2022-05-03 | PMID 35476512

Liakopoulos Apostolos, Aulin Linda B S, Buffoni Matteo and 3 more

Systems biology approach to functionally assess the Clostridioides difficile pangenome reveals genetic diversity with discriminatory power.

Proceedings of the National Academy of Sciences of the United States of America | 2022-05-03 | PMID 35476524

Norsigian Charles J, Danhof Heather A, Brand Colleen K and 7 more

Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.

Proceedings of the National Academy of Sciences of the United States of America | 2022-05-03 | PMID 35476527

Panarotto Melanie, Davidson Iain F, Litos Gabriele and 2 more

Epigenetic fluctuations underlie gene expression timescales and variability.

Physiological genomics | 2022-06-01 | PMID 35476585

Lannan Ryan, Maity Alok, Wollman Roy

Global spatial dynamics and vaccine-induced fitness changes of Bordetella pertussis.

Science translational medicine | 2022-04-27 | PMID 35476597

Lefrancq Noémie, Bouchez Valérie, Fernandes Nadia and 28 more

Epidermal Growth Factor Receptor immunohistochemical expression in hepatocellular carcinoma without Epidermal Growth Factor Receptor exons 18-21 mutations.

Romanian journal of internal medicine = Revue roumaine de medecine interne | 2022-09-01 | PMID 35476635

Nikolova Dafina, Trajkovska Meri, Trpcevska Emilija Nikolovska and 3 more

The Genetic Evolution of Metastasis.

Cancer research | 2022-05-16 | PMID 35476646

Rogiers Aljosja, Lobon Irene, Spain Lavinia and 1 more

Single nucleotide polymorphisms as a predisposing factor for the development of apical periodontitis-An umbrella review.

International endodontic journal | 2022-07-01 | PMID 35476797

Jakovljevic Aleksandar, Jacimovic Jelena, Georgiou Athina Christina and 4 more

The Crawford variant as a cause of RhD typing discrepancies in blood banks: A case report.

Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine | 2022-08-01 | PMID 35476965

Barrera Sussan, Bolívar Margarita, Rodríguez Ayda and 1 more

Shared components of heritability across genetically correlated traits.

American journal of human genetics | 2022-06-02 | PMID 35477001

Ballard Jenna Lee, O'Connor Luke Jen

Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder.

Blood advances | 2022-06-28 | PMID 35477117

Niaz Aram, Truong Jia, Manoleras Annabel and 12 more

Wild type and gain of function mutant TP53 can regulate the sensitivity of pancreatic cancer cells to chemotherapeutic drugs, EGFR/Ras/Raf/MEK, and PI3K/mTORC1/GSK-3 pathway inhibitors, nutraceuticals and alter metabolic properties.

Aging | 2022-04-27 | PMID 35477123

McCubrey James A, Meher Akshaya K, Akula Shaw M and 10 more

Alternating therapy with osimertinib and afatinib for treatment-naive patients with EGFR-mutated advanced non-small cell lung cancer: A single-group, open-label phase 2 trial (WJOG10818L).

Lung cancer (Amsterdam, Netherlands) | 2022-06-01 | PMID 35477147

Hayashi Hidetoshi, Yonesaka Kimio, Nakamura Atsushi and 16 more

ABO genotype alters the gut microbiota by regulating GalNAc levels in pigs.

Nature | 2022-06-01 | PMID 35477154

Yang Hui, Wu Jinyuan, Huang Xiaochang and 26 more

Bilateral Oophorectomy and the Risk of Breast Cancer in BRCA1 Mutation Carriers: A Reappraisal.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2022-07-01 | PMID 35477169

Kotsopoulos Joanne, Lubinski Jan, Gronwald Jacek and 20 more

Germline Pathogenic Variants Impact Clinicopathology of Advanced Lung Cancer.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2022-07-01 | PMID 35477182

Mukherjee Semanti, Bandlamudi Chaitanya, Hellmann Matthew D and 34 more

[Investigation of pncA, rpsA and panD Gene Mutations Associated with Resistance in Pyrazinamide-Resistant Mycobacterium tuberculosis Isolates and Spoligotyping].

Mikrobiyoloji bulteni | 2022-04-01 | PMID 35477224

Özgür Didem, Tezcan Ülger Seda, Kayar Mediha Begüm and 4 more

[Determination and Genotype Distribution of Rotavirus Gastroenteritis in Pediatric Patients Admitted to a Tertiary Care Hospital].

Mikrobiyoloji bulteni | 2022-04-01 | PMID 35477232

Caneriği Fatime Habibe, Şafak Birol

Calcium Sensing Receptor Variants Increase Pulmonary Hypertension Susceptibility.

Hypertension (Dallas, Tex. : 1979) | 2022-07-01 | PMID 35477244

Liu Bingxun, Wei Yun-Peng, Fan Xiaohang and 14 more

Compositionally Aware Phylogenetic Beta-Diversity Measures Better Resolve Microbiomes Associated with Phenotype.

mSystems | 2022-06-28 | PMID 35477286

Martino Cameron, McDonald Daniel, Cantrell Kalen and 9 more

Molecular docking of the pentapeptide derived from rice bran protein as anticancer agent inhibiting both receptor and non-receptor tyrosine kinases.

Journal of biomolecular structure & dynamics | 2023-07-01 | PMID 35477348

Gasymov Oktay K, Kecel-Gunduz Serda, Celik Sefa and 7 more

Markers of kidney function, genetic variation related to cognitive function, and cognitive performance in the UK Biobank.

BMC nephrology | 2022-04-27 | PMID 35477353

Richard Erin L, McEvoy Linda K, Deary Ian J and 7 more

Risk of uterine leiomyoma based on BET1L rs2280543 single nucleotide polymorphism and vegetarian diet.

BMC women's health | 2022-04-27 | PMID 35477381

Lee Shan Chih, Chou Ying-Hsiang, Tantoh Disline Manli and 4 more

Serum metabolomic profiles associated with subclinical and clinical cardiovascular phenotypes in people with type 2 diabetes.

Cardiovascular diabetology | 2022-04-27 | PMID 35477395

Huang Zhe, Klaric Lucija, Krasauskaite Justina and 4 more

A novel phenotype associated with the R162W variant in the KCNJ13 gene.

Ophthalmic genetics | 2022-08-01 | PMID 35477418

Schroeder Marion, Peter Virginie G, Gränse Lotta and 3 more

Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN.

Orphanet journal of rare diseases | 2022-04-27 | PMID 35477461

Ray Anindita, Chattopadhyay Esita, Singh Richa and 17 more

Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.

Journal of medical genetics | 2023-02-01 | PMID 35477554

Varshney Kruti, Narayanachar Sanjeeva Ghanti, Girisha Katta M and 9 more

Mutational meltdown of putative microbial altruists in Streptomyces coelicolor colonies.

Nature communications | 2022-04-27 | PMID 35477578

Zhang Zheren, Shitut Shraddha, Claushuis Bart and 2 more

Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.

Journal of the National Cancer Institute | 2022-08-08 | PMID 35477782

Kaissarian Nayiri M, Meyer Douglas, Kimchi-Sarfaty Chava

ERBB2 S310F mutation independently activates PI3K/AKT and MAPK pathways through homodimers to contribute gallbladder carcinoma growth.

Medical oncology (Northwood, London, England) | 2022-04-28 | PMID 35477796

Fan Kun, Wang Jiwen, Shen Sheng and 8 more

In silico screening and analysis of single-nucleotide polymorphic variants of the ABCC2 gene affecting Dubin-Johnson syndrome.

Arab journal of gastroenterology : the official publication of the Pan-Arab Association of Gastroenterology | 2022-08-01 | PMID 35477852

Sharma Parul, Sharma Siddharth

Kearns-Sayre syndrome with rare imaging finding of SLC25A4 Mutation.

Neurosciences (Riyadh, Saudi Arabia) | 2022-04-01 | PMID 35477912

Zhao Huan, Shi Min, Yang Fang and 1 more

The T allele of TCF7L2 rs7903146 is associated with decreased glucose tolerance after bed rest in healthy older adults.

Scientific reports | 2022-04-27 | PMID 35477971

Fry Jean L, Munson Brooke D, Thompson Katherine L and 3 more

Mutation in SF3B1 gene promotes formation of polyploid giant cells in Leukemia cells.

Medical oncology (Northwood, London, England) | 2022-04-28 | PMID 35478057

Mukherjee Sanjay, Ali Abdullah Mahmood, Murty Vundavalli V and 1 more

Association of miRNA-145 Single Nucleotide Polymorphisms in Abdominal Aortic Aneurysms.

In vivo (Athens, Greece) | 2000-01-01 | PMID 35478113

Hasemaki Natasha, Andreou Nikolaos-Panagiotis, Legaki Evangelia and 3 more

Association of Vitamin D Deficiency and Vitamin D Receptor Genetic Variants With Coronary Artery Disease in Type 2 Diabetic Saudi Patients.

In vivo (Athens, Greece) | 2000-01-01 | PMID 35478145

Shafie Alaa, Askary Ahmad El, Almehmadi Mazen and 7 more

Possible Alterations in Appetite-related Molecules After the Elimination of Hepatitis C Virus.

In vivo (Athens, Greece) | 2000-01-01 | PMID 35478158

Shimono Yoshihiro, Enomoto Hirayuki, Aizawa Nobuhiro and 12 more

Current perspectives on mitochondrial dysfunction in migraine.

The European journal of neuroscience | 2022-07-01 | PMID 35478208

Bohra Shraman Kumar, Achar Raghu Ram, Chidambaram Saravana Babu and 4 more

Modelling ciliopathy phenotypes in human tissues derived from pluripotent stem cells with genetically ablated cilia.

Nature biomedical engineering | 2022-04-01 | PMID 35478224

Cruz Nelly M, Reddy Raghava, McFaline-Figueroa José L and 3 more

Rotaviruses A and C in dairy cattle in the state of Rio de Janeiro, Brazil.

Brazilian journal of microbiology : [publication of the Brazilian Society for Microbiology] | 2022-09-01 | PMID 35478312

Miranda Adriele R M, da Silva Mendes Gabriella, Santos Norma

The novel HLA-DRB1*12:96 allele was likely generated by recombination between DRB1*12:01 and DRB1*14:01.

HLA | 2022-09-01 | PMID 35478384

Long Honghui, Wu Lijuan, Jiao Lin and 2 more

Association of the IRAK4 rs4251545 genetic polymorphism with severity of enterovirus-71 infection in Chinese children.

Immunity, inflammation and disease | 2022-05-01 | PMID 35478439

Song Jie, Liu Yedan, Guo Ya and 8 more

LncRNA LINC00281/Annexin A2 Regulates Vascular Smooth Muscle Cell Phenotype Switching via the Nuclear Factor-Kappa B Signaling Pathway.

Journal of cardiovascular translational research | 2022-10-01 | PMID 35478454

Cheng Lan, Wang Huan, Maboh ReneNfornah and 3 more

Sequence-based typing identification of the novel allele HLA-B*40:482.

HLA | 2022-09-01 | PMID 35478491

Shi Xiu-Min, Hu Rui-Ping, Li Pei-Tong and 2 more

Bladder cancer survival in patients with NOD2 or CDKN2A variants.

Oncotarget | 2022-01-01 | PMID 35478773

Złowocka-Perłowska Elżbieta, van de Wetering Thierry, Tołoczko-Grabarek Aleksandra and 2 more

Case Report: A Highly Variable Clinical and Immunological Presentation of IKAROS Deficiency in a Single Family.

Frontiers in immunology | 2022-01-01 | PMID 35479066

Kuijpers Taco W, Tromp Samantha A M, van Leeuwen Ester M M and 1 more

Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The "Fil Rouge" of Treg Between IPEX Features and Other Clinical Entities?

Frontiers in immunology | 2022-01-01 | PMID 35479070

Gentile Micaela, Miano Maurizio, Terranova Paola and 18 more

Integrating neuroimaging and gene expression data using the imaging transcriptomics toolbox.

STAR protocols | 2022-06-17 | PMID 35479111

Giacomel Alessio, Martins Daniel, Frigo Matteo and 4 more

Correlation genotype-phenotype: MEFV gene mutations and Moroccan patients with rheumatoid arthritis.

The Pan African medical journal | 2022-01-01 | PMID 35480407

Missoum Hakima, Adadi Najlae, Alami Mohammed and 6 more

Thada Is Dispensable for Female Fertility in Mice.

Frontiers in endocrinology | 2022-01-01 | PMID 35480478

Han Shan, Zhang Yuqing, Zheng Yukun and 4 more

A diversity outbred F1 mouse model identifies host-intrinsic genetic regulators of response to immune checkpoint inhibitors.

Oncoimmunology | 2022-01-01 | PMID 35481286

Hackett Justin B, Glassbrook James E, Muñiz Maria C and 7 more

A loss-of-function polymorphism in ATG16L1 compromises therapeutic outcome in head and neck carcinoma patients.

Oncoimmunology | 2022-01-01 | PMID 35481288

Le Naour Julie, Sztupinszki Zsofia, Carbonnier Vincent and 6 more

Detection of Major SARS-CoV-2 Variants of Concern in Clinical Samples via CRISPR-Cas12a-Mediated Mutation-Specific Assay.

ACS synthetic biology | 2022-05-20 | PMID 35481381

Liang Yuanhao, Zou Lirong, Lin Hongqing and 9 more

Sex chromosome DSD individuals with mosaic 45,X0 and aberrant Y chromosomes in 46,XY cells: distinct gender phenotypes and germ cell tumour risks§.

Systems biology in reproductive medicine | 2022-08-01 | PMID 35481403

Vogt Peter H, Besikoglu Banu, Bettendorf Markus and 11 more

IFNL4 genotype influences the rate of HIV-1 seroconversion in men who have sex with men.

Virulence | 2022-12-01 | PMID 35481423

Meza Giovanna, Galián Fátima, Jaimes-Bernal Claudia and 6 more

Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society | 2000-01-01 | PMID 35481434

Cospain Auriane, Faoucher Marie, Cauchois Aurélie and 3 more

Shadow coat colour in American mink associated with a missense mutation in the KIT gene.

Animal genetics | 2022-08-01 | PMID 35481560

Manakhov Andrey D, Mintseva Maria Yu, Andreeva Tatiana V and 2 more