Works matching DE "MISSENSE mutation"

Results: 4319
    1
    2

    Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma.

    Published in:
    Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-59871-3
    By:
    • Wong, Kim;
    • Bishop, Justin A.;
    • Weinreb, Ilan;
    • Motta, Marialetizia;
    • Del Castillo Velasco-Herrera, Martin;
    • Bellacchio, Emanuele;
    • Ferreira, Ingrid;
    • van der Weyden, Louise;
    • Boccacino, Jacqueline M.;
    • Lauri, Antonella;
    • Rotundo, Giovannina;
    • Ciolfi, Andrea;
    • Cheema, Saamin;
    • Olvera-León, Rebeca;
    • Offord, Victoria;
    • Droop, Alastair;
    • Vermes, Ian;
    • Allgäuer, Michael;
    • Hyrcza, Martin;
    • Anderson, Elizabeth
    Publication type:
    Article
    3
    4
    5
    6
    7
    8
    9
    10
    11

    Soluble SorLA in CSF, a novel biomarker to explore disrupted trafficking of SorLA protein in Alzheimer disease.

    Published in:
    Alzheimer's Research & Therapy, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13195-025-01748-0
    By:
    • Castelot, Romain;
    • Zarea, Aline;
    • Wallon, David;
    • Rovelet-Lecrux, Anne;
    • Schramm, Catherine;
    • Quillard-Muraine, Muriel;
    • Beaume, Anne;
    • Blanc, Frédéric;
    • Bousiges, Olivier;
    • Dumurgier, Julien;
    • Formaglio, Maïté;
    • Leguyader, Gwenael;
    • Lehmann, Sylvain;
    • Marelli, Cecilia;
    • Martinet, Matthieu;
    • Nogueira, Leonor;
    • Pariente, Jérémie;
    • Quadrio, Isabelle;
    • Rollin-Sillaire, Adeline;
    • Schraen, Susanna
    Publication type:
    Article
    12
    13
    14
    15
    16
    17
    18
    19
    20
    21
    22
    23
    24
    25
    26
    27
    28
    29
    30
    31
    32

    Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish.

    Published in:
    Brain Communications, 2025, v. 7, n. 1, p. 1, doi. 10.1093/braincomms/fcaf055
    By:
    • Abdel-Hamid, Mohamed S;
    • Paimboeuf, Adeline;
    • Zaki, Maha S;
    • Figueiredo, Fernanda;
    • Abdel-Ghafar, Sherif F;
    • Maher, Sabrina;
    • Friðriksdóttir, Rún;
    • Sulem, Patrick;
    • Högnason, Hákon Björn;
    • Hallgrímsdóttir, Sigrún;
    • Rojas, Catarina Falleiros N;
    • Kok, Fernando;
    • Suri, Mohnish;
    • Alves, César Augusto P F;
    • Houlden, Henry;
    • Maroofian, Reza;
    • Patten, Shunmoogum A
    Publication type:
    Article
    33

    Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

    Published in:
    Brain Communications, 2025, v. 7, n. 1, p. 1, doi. 10.1093/braincomms/fcae453
    By:
    • Kaiyrzhanov, Rauan;
    • Thompson, Kyle;
    • Efthymiou, Stephanie;
    • Mukushev, Askhat;
    • Zharylkassyn, Akbota;
    • Prasad, Chitra;
    • Karimiani, Ehsan Ghayoor;
    • Alvi, Javeria Raza;
    • Niyazov, Dmitriy;
    • Alahmad, Ahmad;
    • Babaei, Meisam;
    • Tajsharghi, Homa;
    • Albash, Buthaina;
    • Alaqeel, Ahmad;
    • Charif, Majida;
    • Hashemi, Narges;
    • Heidari, Morteza;
    • Kalantar, Seyed Mehdi;
    • Lenaers, Guy;
    • Mehrjardi, Mohammad Yahya Vahidi
    Publication type:
    Article
    34
    35
    36
    37

    Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.

    Published in:
    Brain Communications, 2024, v. 6, n. 1, p. 1, doi. 10.1093/braincomms/fcad273
    By:
    • Nóbrega, Paulo R;
    • Paiva, Anderson R. B. de;
    • Souza, Katiane S;
    • Souza, Jorge Luiz B de;
    • Lima, Pedro Lucas G. S. B.;
    • Silva, Delson José da;
    • Pitombeira, Milena Sales;
    • Borges, Viviennee K;
    • Dias, Daniel A;
    • Bispo, Luciana M;
    • Santos, Carolina F;
    • Freua, Fernando;
    • Silva, Paulo Diego S;
    • Alves, Isabela S;
    • Portella, Leonardo B;
    • Cunha, Paulina R;
    • Salomao, Rubens Paulo A;
    • Pedroso, José Luiz;
    • Miyajima, Veridiana P;
    • Miyajima, Fábio
    Publication type:
    Article
    38
    39

    Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course.

    Published in:
    Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab183
    By:
    • Maroofian, Reza;
    • Gubas, Andrea;
    • Kaiyrzhanov, Rauan;
    • Scala, Marcello;
    • Hundallah, Khalid;
    • Severino, Mariasavina;
    • Abdel-Hamid, Mohamed S.;
    • Rosenfeld, Jill A.;
    • Ebrahimi-Fakhari, Darius;
    • Ali, Zahir;
    • Rahim, Fazal;
    • Houlden, Henry;
    • Tooze, Sharon A.;
    • Alsaleh, Norah S.;
    • Zaki, Maha S.
    Publication type:
    Article
    40
    41

    Molecular differences between lymph nodes and distant metastases compared with primaries in colorectal cancer patients.

    Published in:
    NPJ Precision Oncology, 2021, v. 5, n. 1, p. 1, doi. 10.1038/s41698-021-00230-y
    By:
    • Puccini, Alberto;
    • Seeber, Andreas;
    • Xiu, Joanne;
    • Goldberg, Richard M.;
    • Soldato, Davide;
    • Grothey, Axel;
    • Shields, Anthony F.;
    • Salem, Mohamed E.;
    • Battaglin, Francesca;
    • Berger, Martin D.;
    • El-Deiry, Wafik S.;
    • Tokunaga, Ryuma;
    • Naseem, Madiha;
    • Zhang, Wu;
    • Arora, Sukeshi Patel;
    • Khushman, Moh'd M.;
    • Hall, Michael J.;
    • Philip, Philip A.;
    • Marshall, John L.;
    • Korn, W. Michael
    Publication type:
    Article
    42
    43
    44
    45
    46
    47
    48
    49

    New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations.

    Published in:
    Journal of the Endocrine Society, 2019, v. 3, n. 9, p. 1682, doi. 10.1210/js.2019-00225
    By:
    • Fagundes, Gustavo F C;
    • Petenuci, Janaina;
    • Lourenco, Delmar M;
    • Trarbach, Ericka B;
    • Pereira, Maria Adelaide A;
    • D'Eur, Joya Emilie Correa;
    • Hoff, Ana O;
    • Lerario, Antonio M;
    • Zerbini, Maria Claudia N;
    • Siqueira, Sheila;
    • Yamauchi, Fernando;
    • Srougi, Victor;
    • Tanno, Fabio Y;
    • Chambo, Jose Luis;
    • Latronico, Ana Claudia;
    • Mendonca, Berenice B;
    • Fragoso, Maria Candida B V;
    • Almeida, Madson Q
    Publication type:
    Article
    50