Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Association between matrix metalloproteinase-9 gene polymorphism and breast cancer in Brazilian women.
Clinics (Sao Paulo, Brazil)
Oliveira, Victor Alves de VA; Chagas, Diego Cipriano DC; Amorim, Jefferson Rodrigues JR; Pereira, Renato de Oliveira RO; Nogueira, Thais Alves TA; Borges, Victória Maria Luz VML; Campos-Verde, Larysse Maira LM; Martins, Luana Mota LM; Rodrigues, Gilmara Peres GP; Nery Júnior, Elmo de Jesus EJ; Sampaio, Fabiane Araújo FA; Lopes-Costa, Pedro Vitor PV; Sousa, João Marcelo de Castro E JMCE; Silva, Vladmir Costa VC; Silva, Felipe Cavalcanti Carneiro da FCCD; Silva, Benedito Borges da BBD
Dataset of allele and genotype frequencies of the three functionally significant polymorphisms of the MMP genes in Russian patients with primary open-angle glaucoma, essential hypertension and peptic ulcer.
Data In Brief
Minyaylo, Oksana O; Starikova, Dina D; Moskalenko, Maria M; Ponomarenko, Irina I; Reshetnikov, Evgeny E; Dvornyk, Volodymyr V; Churnosov, Mikhail M
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Interactions among variants in P53 apoptotic pathway genes are associated with neurologic deterioration and functional outcome after acute ischemic stroke.
Genetic risk of Spontaneous intracerebral hemorrhage: Systematic review and future directions.
Journal Of The Neurological Sciences
Wahab, Kolawole Wasiu KW; Tiwari, Hemant K HK; Ovbiagele, Bruce B; Sarfo, Fred F; Akinyemi, Rufus R; Traylor, Matthew M; Rotimi, Charles C; Markus, Hugh Stephen HS; Owolabi, Mayowa M
Correlation between Candidate Single Nucleotide Variants and Several Clinicopathological Risk Factors Related to Breast Cancer in Jordanian Women: A Genotype-Phenotype Study.
Journal Of Cancer
Al-Eitan, Laith N LN; Rababa'h, Doaa M DM; Alghamdi, Mansour A MA; Khasawneh, Rame H RH
Variants in matrix metalloproteinase-9 gene are associated with hemorrhagic transformation in acute ischemic stroke patients with atherothrombosis, small artery disease, and cardioembolic stroke.
Matrix metalloproteinase-9 gene polymorphisms are associated with ischemic stroke severity and early neurologic deterioration in patients with atrial fibrillation.
In-depth human plasma proteome analysis captures tissue proteins and transfer of protein variants across the placenta.
Elife
Pernemalm, Maria M; Sandberg, AnnSofi A; Zhu, Yafeng Y; Boekel, Jorrit J; Tamburro, Davide D; Schwenk, Jochen M JM; Björk, Albin A; Wahren-Herlenius, Marie M; Åmark, Hanna H; Östenson, Claes-Göran CG; Westgren, Magnus M; Lehtiö, Janne J
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Lobar Emphysema Distribution Is Associated With 5-Year Radiological Disease Progression.
Chest
Boueiz, Adel A; Chang, Yale Y; Cho, Michael H MH; Washko, George R GR; San José Estépar, Raul R; Bowler, Russell P RP; Crapo, James D JD; DeMeo, Dawn L DL; Dy, Jennifer G JG; Silverman, Edwin K EK; Castaldi, Peter J PJ; ,
Pharmacogenomics of estrogens on changes in carotid artery intima-medial thickness and coronary arterial calcification: Kronos Early Estrogen Prevention Study.
Physiological Genomics
Miller, Virginia M VM; Jenkins, Gregory D GD; Biernacka, Joanna M JM; Heit, John A JA; Huggins, Gordon S GS; Hodis, Howard N HN; Budoff, Matthew J MJ; Lobo, Rogerio A RA; Taylor, Hugh S HS; Manson, JoAnn E JE; Black, Dennis M DM; Naftolin, Frederick F; Harman, S Mitchell SM; de Andrade, Mariza M
Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women.
American Journal Of Obstetrics And Gynecology
Cartwright, Rufus R; Kirby, Anna C AC; Tikkinen, Kari A O KA; Mangera, Altaf A; Thiagamoorthy, Gans G; Rajan, Prabhakar P; Pesonen, Jori J; Ambrose, Chris C; Gonzalez-Maffe, Juan J; Bennett, Phillip P; Palmer, Tom T; Walley, Andrew A; Järvelin, Marjo-Riitta MR; Chapple, Chris C; Khullar, Vik V
Polymorphisms in matrix metalloproteinases MMP1 and MMP9 are associated with primary open-angle and angle closure glaucoma in a Pakistani population.
Molecular Vision
Micheal, Shazia S; Yousaf, Sajeela S; Khan, Muhammad Imran MI; Akhtar, Farah F; Islam, Farah F; Khan, Wajid Ali WA; den Hollander, Anneke I AI; Qamar, Raheel R; Ahmed, Asifa A