Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants.
Journal of neurology | 2023-03-01 | PMID 36411388
Härtl Johanna, Hartberger Julia, Wunderlich Silke and 8 more
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 9049 of 10600
Heritability estimates of distichiasis in Staffordshire bull terriers using pedigrees and genome-wide SNP data.
Acta veterinaria Scandinavica | 2022-11-21 | PMID 36411452
Joergensen Dina, Madsen Per, Ropstad Ernst-Otto and 1 more
How vascular smooth muscle cell phenotype switching contributes to vascular disease.
Cell communication and signaling : CCS | 2022-11-21 | PMID 36411459
Cao Genmao, Xuan Xuezhen, Hu Jie and 3 more
Prenatal phenotype of FBXL4-associated encephalomyopathic mitochondrial DNA depletion syndrome-13.
Prenatal diagnosis | 2022-12-01 | PMID 36411461
Saini Neelam, Vijayasree Venkatapuram, Nandury Eshwar Chandra and 2 more
A novel NF1 mutation in a pediatric patient with renal artery aneurysm.
Italian journal of pediatrics | 2022-11-21 | PMID 36411470
Chillura Ilenia, Restivo Giulia Angela, Callari Simonetta and 6 more
Characterization of the novel HLA-DPB1*11:01:06 allele by sequencing-based typing.
HLA | 2023-03-01 | PMID 36411507
Cargou Marine, Elsermans Vincent, Top Isabelle and 2 more
Prognostic correlation of NOTCH1 and SF3B1 mutations with chromosomal abnormalities in chronic lymphocytic leukemia patients.
Cancer reports (Hoboken, N.J.) | 2023-03-01 | PMID 36411516
Sadria Reza, Motamed Nasrin, Saberi Anvar Mohammad and 2 more
Notch pathway regulates osimertinib drug-tolerant persistence in EGFR-mutated non-small-cell lung cancer.
Cancer science | 2023-04-01 | PMID 36411521
Takahashi Hirofumi, Sakakibara-Konishi Jun, Furuta Megumi and 10 more
Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy.
Annals of medicine | 2022-12-01 | PMID 36411543
Mao Jianbo, Chen Yijing, Fang Yuyan and 6 more
Differential Neurobiological Markers in Phenotype-stratified Rats Modeling High or Low Vulnerability to Compulsive Behavior: A Narrative Review.
Current neuropharmacology | 2023-01-01 | PMID 36411566
Martín-González Elena, Olmedo-Córdoba Manuela, Flores Pilar and 1 more
Development of molecular inversion probes for soybean progeny genomic selection genotyping.
The plant genome | 2023-03-01 | PMID 36411593
Wang Haichuan, Campbell Benjamin, Happ Mary and 6 more
Genes: MIP
The prospect of combination therapies with the third-generation EGFR-TKIs to overcome the resistance in NSCLC.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie | 2022-12-01 | PMID 36411663
Li Shiyu, Zhu Shuangli, Wei Hongqu and 6 more
FLT3 inhibitors as maintenance therapy post allogeneic hematopoietic stem cell transplantation in acute myeloid leukemia patients with FLT3 mutations: A meta-analysis.
Cancer medicine | 2023-03-01 | PMID 36411731
Fei Xinhong, Zhang Shuqin, Gu Jiangying and 1 more
In Silico Evaluation of Nonsynonymous SNPs in Human ADAM33: The Most Common Form of Genetic Association to Asthma Susceptibility.
Computational and mathematical methods in medicine | 2022-01-01 | PMID 36411793
Mohkam Milad, Golkar Nasim, Nabavizadeh Seyed Hesamodin and 5 more
The extended day length promotes earlier flowering of bermudagrass.
PeerJ | 2022-01-01 | PMID 36411836
Ji Mingxia, Wang Guangyang, Liu Xiaoyan and 4 more
Characterization of a novel androgen receptor gene variant identified in an Iranian family with complete androgen insensitivity syndrome (CAIS): a molecular dynamics simulation study.
Journal of biomolecular structure & dynamics | 2023-11-01 | PMID 36411944
Aghaei Shahrzad, Parvizpour Sepideh, Farrokhi Effat and 3 more
Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.
Clinical genetics | 2023-03-01 | PMID 36411955
Jin Danni, Wek Sheree A, Cordova Ricardo A and 4 more
Genetically engineered multicistronic allele of Pmel yielding highly specific CreERT2-mediated recombination in the melanocyte lineage.
Pigment cell & melanoma research | 2023-01-01 | PMID 36412082
Wilkinson Emma L, Brennan Louise C, Harrison Olivia J and 9 more
Identification of HLA-DPA1*01:03:01:57 and HLA-DPA1*02:01:01:29 from a case-control study of atopic dermatitis.
HLA | 2023-03-01 | PMID 36412220
Damianos Georgios, Duke Jamie L, Pagkrati Ioanna and 2 more
The novel HLA-C*01:239 allele, identified by Sanger dideoxy nucleotide sequencing in a Chinese individual.
HLA | 2023-03-01 | PMID 36412259
Zhou Fang, Zheng Zhong-Zheng, Du Ke-Ming and 2 more
The study of genetic predisposition on periodontitis and peri-implantitis.
Nigerian journal of clinical practice | 2022-11-01 | PMID 36412285
Turkmen M, Firatli E
Spontaneous regression in a primary adenocarcinoma of lung with epidermal growth factor receptor mutation.
Journal of cancer research and therapeutics | 2000-01-01 | PMID 36412453
Ahmad Farhan, Singh Shalini, Kumari Niraj
In vitro characterization of the intramelanosomal domain of human recombinant TYRP1 and its oculocutaneous albinism type 3-related mutant variants.
Protein science : a publication of the Protein Society | 2023-01-01 | PMID 36412553
Dolinska Monika B, Anderson David E, Sergeev Yuri V
Interaction among dietary n-3 and n-6 polyunsaturated fatty acid intake, fatty acid desaturase 2 genetic variants, and low-density lipoprotein cholesterol levels in type 2 diabetes patients.
Journal of diabetes investigation | 2023-02-01 | PMID 36412559
Huang Pei-Chi, Cheng Hsuan, Su Yu-Ting and 5 more
Targeted Next-Generation Sequencing Reveals a Large Novel β-Thalassemia Deletion that Removes the Entire HBB Gene.
Hemoglobin | 2022-09-01 | PMID 36412578
Yin Zhen-Zhen, Yao Jian, Wei Feng-Xiang and 3 more
Characterization of the novel HLA-B*08:302 allele by sequencing-based typing.
HLA | 2023-03-01 | PMID 36412840
Cargou Marine, Elsermans Vincent, Top Isabelle and 2 more
The presence of a chromosomal abnormality in cytopenia without dysplasia identifies a category of high-risk clonal cytopenia of unknown significance.
Genes, chromosomes & cancer | 2023-03-01 | PMID 36412977
Brett Victor-Emmanuel, Lechevalier Nicolas, Trimoreau Franck and 17 more
Structural Foundations of Potassium Selectivity in Channelrhodopsins.
mBio | 2022-12-20 | PMID 36413022
Govorunova Elena G, Sineshchekov Oleg A, Brown Leonid S and 2 more
Machine learning approaches for electronic health records phenotyping: a methodical review.
Journal of the American Medical Informatics Association : JAMIA | 2023-01-18 | PMID 36413056
Yang Siyue, Varghese Paul, Stephenson Ellen and 2 more
Clinically relevant mouse models of Charcot-Marie-Tooth type 2S.
Human molecular genetics | 2023-04-06 | PMID 36413117
Martin Paige B, Holbrook Sarah E, Hicks Amy N and 4 more
Genetic and epigenetic variation separately contribute to range expansion and local metalliferous habitat adaptation during invasions of Chenopodium ambrosioides into China.
Annals of botany | 2022-12-31 | PMID 36413156
Zhang Hanchao, Tang Yongwei, Li Quanyuan and 5 more
Prevalence of macrolide and fluoroquinolone resistance-associated mutations in Mycoplasma genitalium in metropolitan and overseas France.
Sexually transmitted infections | 2023-06-01 | PMID 36413349
Pereyre Sabine, Laurier-Nadalié Cécile, Le Roy Chloé and 5 more
Identification of regulatory variants of carboxylesterase 1 (CES1): A proof-of-concept study for the application of the Allele-Specific Protein Expression (ASPE) assay in identifying cis-acting regulatory genetic polymorphisms.
Proteomics | 2023-01-01 | PMID 36413357
Her Lucy, Shi Jian, Wang Xinwen and 4 more
Energy Trade-off and 4 Extreme Human Body Types.
The Journal of clinical endocrinology and metabolism | 2023-04-13 | PMID 36413496
Hochberg Ze'ev, Albertsson-Wikland Kerstin, Privé Florian and 4 more
Genome-wide association studies of peduncle length in wheat under rain-fed and irrigating field conditions.
Journal of plant physiology | 2023-01-01 | PMID 36413900
Wang Tingting, Su Ning, Lu Jianan and 3 more
Quick and Accurate Estimates of Mutation Effects on Transition-State Stabilization of Enzymes from Molecular Simulations with Restrained Transition States.
The journal of physical chemistry. B | 2022-12-08 | PMID 36413982
Burgin Tucker, Pfaendtner Jim, Beck David A C
Developing Automated Computer Algorithms to Phenotype Periodontal Disease Diagnoses in Electronic Dental Records.
Methods of information in medicine | 2022-12-01 | PMID 36413995
Patel Jay Sureshbhai, Brandon Ryan, Tellez Marisol and 4 more
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
American journal of human genetics | 2022-12-01 | PMID 36413998
Parthasarathy Shridhar, Ruggiero Sarah McKeown, Gelot Antoinette and 23 more
Genomic and RNA-Seq profiling of patients with HFrEF unraveled OAS1 mutation and aggressive expression.
International journal of cardiology | 2023-03-15 | PMID 36414043
Li Xin, Shen Yanying, Xu Xiang and 6 more
iPSC-Derived Neurons from Patients with POLG Mutations Exhibit Decreased Mitochondrial Content and Dendrite Simplification.
The American journal of pathology | 2023-02-01 | PMID 36414085
Verma Manish, Francis Lily, Lizama Britney N and 11 more
The effect of high-density genotypic data and different methods on joint genomic prediction: A case study in large white pigs.
Animal genetics | 2023-02-01 | PMID 36414135
Zhao Wei, Zhang Zhenyang, Ma Peipei and 4 more
Mutational escape prevention by combination of four neutralizing antibodies that target RBD conserved regions and stem helix.
Virologica Sinica | 2022-12-01 | PMID 36414178
Tang Haoneng, Ke Yong, Liao Yunji and 10 more
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
European journal of medical genetics | 2023-01-01 | PMID 36414205
Delanne Julian, Lecat Magaly, Blackburn Patrick R and 32 more
Lack of evolutionary convergence in multiple primary lung cancer suggests insufficient specificity of personalized therapy.
Journal of genetics and genomics = Yi chuan xue bao | 2023-05-01 | PMID 36414223
Cheng Hua, Guo Ziyan, Zhang Xiaoyu and 17 more
Risk factors for clonal hematopoiesis of indeterminate potential and mosaic chromosomal alterations.
Translational research : the journal of laboratory and clinical medicine | 2023-05-01 | PMID 36414227
Jakubek Yasminka A, Reiner Alexander P, Honigberg Michael C
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Journal of medical genetics | 2023-07-01 | PMID 36414255
Abiusi Emanuela, Vaisfeld Alessandro, Fiori Stefania and 26 more
Likelihood of germline mutation with solitary retinoblastoma based on tumour location at presentation.
The British journal of ophthalmology | 2023-12-18 | PMID 36414256
Dockery Philip W, Ruben Megan, Duffner Emily R and 4 more
Overlap between genetic variants associated with schizophrenia spectrum disorders and intelligence quotient: a systematic review.
Journal of psychiatry & neuroscience : JPN | 2000-01-01 | PMID 36414327
Murillo-García Nancy, Barrio-Martínez Sara, Setién-Suero Esther and 4 more
Manganese efflux transporter SLC30A10 missense polymorphism T95I associated with liver injury retains manganese efflux activity.
American journal of physiology. Gastrointestinal and liver physiology | 2023-01-01 | PMID 36414535
Gurol Kerem C, Li Danyang, Broberg Karin and 1 more
Malignant peripheral nerve sheath tumor in children: A clinicopathologic and molecular study with parallels to the adult counterpart.
Genes, chromosomes & cancer | 2023-03-01 | PMID 36414547
Agaram Narasimhan P, Wexler Leonard H, Chi Ping and 1 more
Differences in Immune phenotype in decidual tissue from multigravid women compared to primigravid women.
American journal of reproductive immunology (New York, N.Y. : 1989) | 2023-03-01 | PMID 36414574
Laskewitz Anne, Kieffer Tom E C, van Benthem Karlijn L and 3 more
Genome-wide analysis-based single nucleotide polymorphism marker sets to identify diverse genotypes in cabbage cultivars (Brassica oleracea var. capitata).
Scientific reports | 2022-11-21 | PMID 36414667
Jo Jinkwan, Kang Min-Young, Kim Kyung Seok and 7 more
Lodging resistance of rice plants studied from the perspective of culm mechanical properties, carbon framework, free volume, and chemical composition.
Scientific reports | 2022-11-21 | PMID 36414706
Liu Qing, Yin Chongshan, Li Xi and 3 more
Developments in the Treatment of Leber Hereditary Optic Neuropathy.
Current neurology and neuroscience reports | 2022-12-01 | PMID 36414808
Chen Benson S, Yu-Wai-Man Patrick, Newman Nancy J
Genome-wide screening for genetic variants in polyadenylation signal (PAS) sites in mouse selection lines for fatness and leanness.
Mammalian genome : official journal of the International Mammalian Genome Society | 2023-03-01 | PMID 36414820
Šimon Martin, Mikec Špela, Morton Nicholas M and 4 more
Overall survival analysis of patients enrolled in a randomized phase III trial comparing gefitinib and erlotinib for previously treated advanced lung adenocarcinoma (WJOG5108LFS).
International journal of clinical oncology | 2023-01-01 | PMID 36414827
Katakami Nobuyuki, Yokoyama Toshihide, Morita Satoshi and 16 more
Significance of cardiovascular comorbidity in patients with chronic myelomonocytic leukemia.
Wiener medizinische Wochenschrift (1946) | 2023-02-01 | PMID 36414855
Lackner David, Geissler Klaus
The GZnC1 variant from common wild rice influences grain Zn content.
Plant molecular biology | 2023-02-01 | PMID 36414883
Hou Jingjing, Chen Hao, Zhang Kun and 8 more
Genomic strategies to untangle the etiology of autism: A primer.
Autism research : official journal of the International Society for Autism Research | 2023-01-01 | PMID 36415077
Vashisth Shayal, Chahrour Maria H
HLA-DQ genotype distribution and risk evaluation of celiac disease in Northwest China.
Scandinavian journal of gastroenterology | 2023-05-01 | PMID 36415137
Shi Tian, Liu Weidong, Li Ting and 5 more
Identification of nonfunctional SPATA20 causing acephalic spermatozoa syndrome in humans.
Clinical genetics | 2023-03-01 | PMID 36415156
Wang Xiang, Jiang Chuan, Dai Siyu and 3 more
Identification of highly specific antibodies for Serine/threonine-protein kinase TBK1 for use in immunoblot, immunoprecipitation and immunofluorescence.
F1000Research | 2022-01-01 | PMID 36415206
Alshafie Walaa, Fotouhi Maryam, Shlaifer Irina and 5 more
Analysis of TERT Rs2736100 genotype distribution in laryngeal squamous cell carcinoma patients.
Journal of medicine and life | 2022-09-01 | PMID 36415512
Cornean Corina Iulia, Maniu Alma Aurelia
Real-world data on the efficacy and safety of tezacaftor-ivacaftor in adults living with cystic fibrosis homozygous for F508del and heterozygous for F508del and a residual function mutation.
Acta clinica Belgica | 2023-08-01 | PMID 36415912
Vincken Stefanie, Verbanck Sylvia, Braun Sue and 3 more
Possible association between the lrrk2 gene and anxiety behavior: a systematic literature review.
Journal of neurogenetics | 2000-01-01 | PMID 36415932
Moreira-Júnior R E, Souza R M, de Carvalho J G and 2 more
Refinement of newborn screening for cystic fibrosis with next generation sequencing.
Pediatric pulmonology | 2023-03-01 | PMID 36416003
Rock Michael J, Baker Mei, Antos Nicholas and 1 more
A Zn-dependent structural transition of SOD1 modulates its ability to undergo phase separation.
The EMBO journal | 2023-01-16 | PMID 36416085
Das Bidisha, Roychowdhury Sumangal, Mohanty Priyesh and 4 more
Identification of the novel HLA-B*07:458 allele, detected in two unrelated bone marrow donors.
HLA | 2023-03-01 | PMID 36416147
Ananeva Anastasiia, Vizerov Timofey, Zabudskaya Kseniya and 2 more
ZDHHC9 X-linked intellectual disability: Clinical and molecular characterization.
American journal of medical genetics. Part A | 2023-02-01 | PMID 36416207
Ramos Anna Karolina Silva, Caldas-Rosa Erica Carine Campos, Ferreira Bárbara Merfort and 5 more
Primary mucosal melanomas of the head and neck are characterised by overexpression of the DNA mutating enzyme APOBEC3B.
Histopathology | 2023-03-01 | PMID 36416305
Argyris Prokopios P, Naumann Jordan, Jarvis Matthew C and 9 more
Seroprevalence and genetic characterization of Toxoplasma gondii in domestic pigs intended for human consumption in Cuba.
Zoonoses and public health | 2023-03-01 | PMID 36416370
Castillo-Cuenca Julio César, Almería Sonia, Calero-Bernal Rafael and 6 more
ADHD - What Is the Meaning of Sex-dependent Incidence Differences?
Prague medical report | 2022-01-01 | PMID 36416460
Mourek Jindřich, Pokorný Jaroslav
What determines the evolutionary trajectories of wild plant species? Approaches to the study of quantitative fitness-related traits.
American journal of botany | 2022-11-01 | PMID 36416487
Mazer Susan J, Sakai Ann K, Weller Stephen G and 1 more
Identification of DPYD variants and estimation of uracil and dihydrouracil in a healthy Indian population.
Personalized medicine | 2023-01-01 | PMID 36416570
Sivamani Poornima, Eriyat Vishnu, Mathew Sumith K and 6 more
Characterization of the novel HLA-DQA1*05:05:14 allele by sequencing-based typing.
HLA | 2023-03-01 | PMID 36416663
Cargou Marine, Andreani Marco, Battarra Mariarosa and 2 more
Transcriptome-wide association study and eQTL colocalization identify potentially causal genes responsible for human bone mineral density GWAS associations.
eLife | 2022-11-23 | PMID 36416764
Al-Barghouthi Basel Maher, Rosenow Will T, Du Kang-Ping and 13 more
Risk Factors Associated With First and Second Primary Melanomas in a High-Incidence Population.
JAMA dermatology | 2023-01-01 | PMID 36416830
Olsen Catherine M, Pandeya Nirmala, Dusingize Jean Claude and 4 more
[Genetic tumor risk syndromes : Human genetic aspects for radiologists].
Radiologie (Heidelberg, Germany) | 2022-12-01 | PMID 36416927
Ripperger Tim
Plastic energy allocation toward life-history functions in a consumer-resource interaction : Analyzing the temporal patterns of the consumer-resource dynamics.
Journal of mathematical biology | 2022-11-23 | PMID 36416949
Gutiérrez R, Córdova-Lepe F, Moreno-Gómez F N and 1 more
Comparison of genotyping and weight of evidence results when applying different genotyping strategies on samples from a DNA transfer experiment.
International journal of legal medicine | 2023-01-01 | PMID 36416964
Duijs Francisca E, Meijers Erin, Kokshoorn Bas and 1 more
Low-affinity SPL binding sites contribute to subgenome expression divergence in allohexaploid wheat.
Science China. Life sciences | 2023-04-01 | PMID 36417050
Pei Hongcui, Teng Wan, Gao Lifeng and 7 more
Association between interleuleukin-1β polymorphism (rs16944) and biomarkers levels in Iraqi patients with prostate cancer.
Molecular biology reports | 2023-02-01 | PMID 36417078
Abed Arwa Shtaiwi, Mokdad-Gargouri Raja, Raoof Waad Mahmood
Genetic analysis and clinical features of three Chinese patients with Oguchi disease.
Documenta ophthalmologica. Advances in ophthalmology | 2023-02-01 | PMID 36417138
Wei Xing, Li Hui, Wu Shijing and 2 more
Mutations within gene XNR_2147 for TetR-like protein enhance lincomycin resistance and endogenous specialized metabolism of Streptomyces albus J1074.
Journal of applied genetics | 2023-02-01 | PMID 36417169
Tseduliak Vasylyna-Marta, Dolia Borys, Ostash Iryna and 7 more
Expression inheritance and constraints on cis- and trans-regulatory mutations underlying lotus color variation.
Plant physiology | 2023-03-17 | PMID 36417237
Gao Zhiyan, Yang Xingyu, Chen Jinming and 2 more
PHOSPHATE RESPONSE 1 family members act distinctly to regulate transcriptional responses to phosphate starvation.
Plant physiology | 2023-02-12 | PMID 36417239
Wang Zhen, Zheng Zai, Zhu Yumin and 2 more
Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.
PloS one | 2022-01-01 | PMID 36417404
Bartik Zsuzsa I, Sillén Ulla, Djos Anna and 2 more
Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy.
Science translational medicine | 2022-11-23 | PMID 36417486
Nishiyama Takahiko, Zhang Yu, Cui Miao and 9 more
Genes: RBM20
Simultaneous analysis of mutations and methylations in circulating cell-free DNA for hepatocellular carcinoma detection.
Science translational medicine | 2022-11-23 | PMID 36417488
Wang Pei, Song Qianqian, Ren Jie and 11 more
Role of small RNAs harbored by sperm in embryonic development and offspring phenotype.
Andrology | 2023-05-01 | PMID 36417503
Yang Chen, Zeng Qun-Xiong, Liu Jin-Chuan and 3 more
High-temperature adaptation of an OsNRT2.3 allele is thermoregulated by small RNAs.
Science advances | 2022-11-25 | PMID 36417515
Zhang Yong, Tateishi-Karimata Hisae, Endoh Tamaki and 17 more
Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo.
Science advances | 2022-11-25 | PMID 36417521
Cheng Fubo, Zheng Wenxu, Liu Chang and 14 more
Catheter-Directed Thrombolysis for Acute Digit Ischemia in the Setting of Heterozygous Factor V Leiden Mutation: A Case Report and Review of Literature.
JBJS case connector | 2022-10-01 | PMID 36417546
Nikizad Hooman, Tsai David, Lookstein Robert and 1 more
Comparison of senescence phenotype of short- and long- term cultured rat mesenchymal stem cells in vitro.
Anais da Academia Brasileira de Ciencias | 2022-01-01 | PMID 36417606
Lemos Vanessa P A, Porto Michele, Cezar Rafael DA S and 5 more
Evaluation of the Rho-kinase gene expression and polymorphisms in adult patients with acute appendicitis: a differential impact of gender.
Revista da Associacao Medica Brasileira (1992) | 2022-01-01 | PMID 36417654
Günay Nahide Ekici, Bülbül Emre, Şener Elif Funda and 4 more
Recent advances of novel fourth generation EGFR inhibitors in overcoming C797S mutation of lung cancer therapy.
European journal of medicinal chemistry | 2023-01-05 | PMID 36417820
Xu Li, Xu Bing, Wang Jianshe and 4 more
Calreticulin mutations affect its chaperone function and perturb the glycoproteome.
Cell reports | 2022-11-22 | PMID 36417879
Schürch Patrick M, Malinovska Liliana, Hleihil Mohammad and 11 more
Hereditary Angioedema: The Clinical Picture of Excessive Contact Activation.
Seminars in thrombosis and hemostasis | 2024-10-01 | PMID 36417927
Petersen Remy S, Fijen Lauré M, Levi Marcel and 1 more
KRAS mutation-induced EndMT of brain arteriovenous malformation is mediated through the TGF-β/BMP-SMAD4 pathway.
Stroke and vascular neurology | 2023-06-01 | PMID 36418055
Xu Hongyuan, Huo Ran, Li Hao and 10 more
Analyzing rare mutations in metagenomes assembled using long and accurate reads.
Genome research | 2000-01-01 | PMID 36418060
Fedarko Marcus W, Kolmogorov Mikhail, Pevzner Pavel A