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Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1
Bigoni, Stefania, Marangi, Giuseppe, Frangella, Silvia, Panfili, Arianna, Ognibene, Davide, Squeo, Gabriella Maria, Merla, Giuseppe, Zollino, Marcella
Published in Genes (09.10.2020)
Published in Genes (09.10.2020)
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Chip physically interacts with Notch and their stoichiometry is critical for Notch function in wing development and cell proliferation in Drosophila
Sachan, Nalani, Mishra, Abhinava K., Mutsuddi, Mousumi, Mukherjee, Ashim
Published in Biochimica et biophysica acta (01.04.2015)
Published in Biochimica et biophysica acta (01.04.2015)
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The Association Between rs1748195 and rs11207997 Variants of the ANGPTL3 Gene and Susceptibility to Cardiovascular Disease in the MASHAD Cohort Study
Aghasizadeh, Malihe, Safarian, Hamideh, Haqhani, Mohamad, Avan, Amir, Kazemi, Tooba, Ferns, Gordon A., Esmaily, Habibollah, Miri-Moghaddam, Ebrahim, Ghayour-Mobarhan, Majid
Published in Biochemical genetics (01.04.2022)
Published in Biochemical genetics (01.04.2022)
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T130I mutation in HNF-4alpha gene is a loss-of-function mutation in hepatocytes and is associated with late-onset Type 2 diabetes mellitus in Japanese subjects
Zhu, Q, Yamagata, K, Miura, A, Shihara, N, Horikawa, Y, Takeda, J, Miyagawa, J, Matsuzawa, Y
Published in Diabetologia (01.04.2003)
Published in Diabetologia (01.04.2003)
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T130I mutation in HNF-4[alpha] gene is a loss-of-function mutation in hepatocytes and is associated with late-onset Type 2 diabetes mellitus in Japanese subjects
Zhu, Q, Yamagata, K, Miura, A, Shihara, N, Horikawa, Y, Takeda, J, Miyagawa, J, Matsuzawa, Y
Published in Diabetologia (01.04.2003)
Published in Diabetologia (01.04.2003)
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Genetic variation of the blood coagulation regulator tissue factor pathway inhibitor and venous thromboembolism among middle‐aged and older adults: A population‐based cohort study
Manderstedt, Eric, Lind‐Halldén, Christina, Halldén, Christer, Elf, Johan, Svensson, Peter J., Engström, Gunnar, Melander, Olle, Baras, Aris, Lotta, Luca A., Zöller, Bengt, Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Balasubramanian, Suganthi, Blumenfeld, Andrew, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Salerno, William, Staples, Jeffrey C., Jones, Marcus B., Mighty, Jason, Mitnaul, Lyndon J.
Published in Research and practice in thrombosis and haemostasis (01.10.2022)
Published in Research and practice in thrombosis and haemostasis (01.10.2022)
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Allelic Complexity in Long QT Syndrome: A Family-Case Study
Zullo, Alberto, Frisso, Giulia, Detta, Nicola, Sarubbi, Berardo, Romeo, Emanuele, Cordella, Angela, Vanoye, Carlos, Calabrò, Raffaele, George, Alfred, Salvatore, Francesco
Published in International journal of molecular sciences (27.07.2017)
Published in International journal of molecular sciences (27.07.2017)
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Immortalization and Characterization of Bone Marrow Stromal Fibroblasts from a Patient with a Loss of Function Mutation in the Estrogen Receptor‐α Gene
Dieudonné, S. C., Xu, T., Chou, J. Y., Kuznetsov, S. A., Satomura, K., Mankani, M., Fedarko, N. S., Smith, E. P., Robey, P. Gehron, Young, M. F.
Published in Journal of bone and mineral research (01.04.1998)
Published in Journal of bone and mineral research (01.04.1998)
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Triamcinolone regulated apopto-phagocytic gene expression patterns in the clearance of dying retinal pigment epithelial cells. A key role of Mertk in the enhanced phagocytosis
Albert, Réka, Kristóf, Endre, Zahuczky, Gábor, Szatmári-Tóth, Mária, Veréb, Zoltán, Oláh, Brigitta, Moe, Morten C., Facskó, Andrea, Fésüs, László, Petrovski, Goran
Published in Biochimica et biophysica acta (01.02.2015)
Published in Biochimica et biophysica acta (01.02.2015)
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T1301 mutation in HNF-4α gene is a loss-of-function mutation in hepatocytes and is associated with late-onset Type 2 diabetes mellitus in Japanese subjects
ZHU, Q, YAMAGATA, K, MIURA, A, SHIHARA, N, HORIKAWA, Y, TAKEDA, J, MIYAGAWA, J, MATSUZAWA, Y
Published in Diabetologia (2003)
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Published in Diabetologia (2003)
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Glutathione S-transferase M1 (GSTM1) and T1 (GSTT1) variants and breast cancer risk in Burkina Faso
Kiendrebeogo, Isabelle Touwendpoulimdé, Zoure, Abdou Azaque, Sorgho, Pegdwendé Abel, Yonli, Albert Théophane, Djigma, Florencia Wendkuuni, Ouattara, Abdoul Karim, Sombie, Herman Karim, Tovo, Sessi Frida, Yelemkoure, Edwige T., Bambara, Aboubacar Hierrhum, Sawadogo, Alexis Yobi, Bakri, Youssef, Simpore, Jacques
Published in Biomolecular concepts (09.11.2019)
Published in Biomolecular concepts (09.11.2019)
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Serotonin 5-HT(2B) receptor loss of function mutation in a patient with fenfluramine-associated primary pulmonary hypertension
Blanpain, Cédric, Le Poul, Emmanuel, Parma, Jasmine, Knoop, Christiane, Detheux, Michel, Parmentier, Marc, Vassart, Gilbert, Abramowicz, Marc J
Published in Cardiovascular research (01.12.2003)
Published in Cardiovascular research (01.12.2003)
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ANGPTL4 gene E40K variation protects against obesity‐associated dyslipidemia in participants with obesity
Bailetti, D., Bertoccini, L., Mancina, R. M., Barchetta, I., Capoccia, D., Cossu, E., Pujia, A., Lenzi, A., Leonetti, F., Cavallo, M. G., Romeo, S., Baroni, M. G.
Published in Obesity science & practice (01.02.2019)
Published in Obesity science & practice (01.02.2019)
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