Results 171 to 180 of about 247,558 (284)

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity. [PDF]

Proc Natl Acad Sci U S A
Riahi Z, Boucher S, Abdi S, Wong Jun Tai F, Singh-Estivalet A, Aghaie A, Niasme-Grare M, Hardelin JP, Behlouli A, Dahmani M, Talbi S, Bouyacoub Y, Mkaouar R, Charfeddine C, Amalou G, Bakhchane A, Bousfiha A, Salime S, Elrharchi S, Salame M, Hadrami M, Boussaty E, Charoute H, Detsouli M, Snoussi K, Rouba H, Hachmi HE, Veten F, Meiloud G, Marrakchi J, Zainine R, Chahed H, Besbes G, Trabelsi M, Mrad R, Kraoua I, Ouhab S, Djennaoui D, Boudjenah F, Chouery E, Mustapha M, Houmeida A, Barakat A, Khodja FA, Makrelouf M, Zenati A, Beltaief N, Abdelhak S, Petit C, Bonnet C.   +49 more
europepmc   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source

Successful kidney transplantation in a patient with late-onset type II Bartter syndrome: A rare case report. [PDF]

Clin Nephrol Case Stud
Baligeri K, Shankar M, Sampath Kumar D, C Gurusiddiah S.   +3 more
europepmc   +1 more source

Novel SOX17 frameshift mutations in endometrial cancer are functionally distinct from recurrent missense mutations. [PDF]

, 2017
Cohn, David E, Goodfellow, Paul J, Kurita, Takeshi, Miranda, Mario A, Mutch, David G, O\u27Hern, Matthew J, Sapp, Caroline E, Serna, Vanida A, Walker, Christopher J   +8 more
core   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Missense-Mutation [PDF]

, 2018
openaire   +1 more source

Detecting TP53 mutations in paired liquid and tissue biopsies from patients with high‐grade serous ovarian carcinoma

International Journal of Cancer, EarlyView.
What's New? High‐grade serous ovarian carcinoma is often diagnosed at advanced stages due to non‐specific symptoms and the lack of reliable screening methods. This proof‐of‐concept study introduces a novel TP53 mutation panel using unique molecular identifier‐based next‐generation sequencing for sensitive detection of high‐grade serous ovarian ...
Amanda Olsson Widjaja, Peter Micallef, Maria Lycke, Tobias Österlund, Manuel Luna Santamaría, Julia Hedlund Lindberg, Therese Carlsson, Ulf Gyllensten, Anders Ståhlberg, Benjamin Ulfenborg, Anna Linder, Karin Sundfeldt   +11 more
wiley   +1 more source

To be or not to be a protein coding mutation, that's the question! [PDF]

NAR Genom Bioinform
De Groote D, Pepe D, Janssens X, De Keersmaecker K.   +3 more
europepmc   +1 more source

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss

Journal of Clinical Laboratory Analysis, EarlyView.
We identified a novel c.1023_1029del (p.Asp342ArgfsTer54) frameshift variant in the HOMER2 gene that causes ADNSHL in a Chinese family with progressive, post‐lingual sensorineural hearing loss. The c.1023_1029del variant deletes 7 nucleotides, leading to an extended incorrect protein C terminus and marks the sixth pathogenic (or likely pathogenic ...
Li‐Ting Peng, Wei‐Qian Wang, Sha‐Sha Huang, Min Liu, Su‐Yan Yang, Dong‐Yang Kang, Xiang Wang, Xue Gao, Yong‐Yi Yuan, Jin‐Cao Xu   +9 more
wiley   +1 more source

Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid. [PDF]

Calcif Tissue Int
Meng L, Hu J, Sun L, Zhang Q, Wang O, Jiang Y, Xing X, Xia W, Li M.   +8 more
europepmc   +1 more source