Results 201 to 210 of about 132,731 (277)

Malignant mesothelioma with a novel <i>BAP1</i> germline frameshift mutation treated with dual immune checkpoint inhibitors: A case report. [PDF]

Oncol Lett
Zhou N, Wu M, Wang C, Yuan M, Cheng Y, Wu H, Gao X, Yu S, Zhao L.   +8 more
europepmc   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Corrigendum: Case report: A novel PTCH1 frameshift mutation leading to nevoid basal cell carcinoma syndrome. [PDF]

Front Med (Lausanne)
Lang X, Wang T, Guo S, Dang Y, Zhang Y, Liu H, He H, Li L, Yuan H, He T, Wang Q, Qin S, Cheng R, Yan X, Cui H.   +14 more
europepmc   +1 more source

Clonal haematopoiesis in T‐follicular helper cell lymphoma: A prognostic biomarker and early event in lymphoma evolution

British Journal of Haematology, EarlyView.
Summary T‐follicular helper cell lymphomas (TFHLs) are frequently associated with epigenetic mutations and clonal haematopoiesis (CH), but the clinical and prognostic implications of CH in TFHL remains unclear. We performed next‐generation sequencing on paired peripheral blood (PB) and tumour tissue samples from 30 patients with TFHL. CH was defined by
Chong Wei, Yan Zhang, Danqing Zhao, Wei Zhang, Daobin Zhou   +4 more
wiley   +1 more source

A novel frameshift mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report. [PDF]

Int J Ophthalmol
Gu QM, He XF, Xiao WZ, Qu C.
europepmc   +1 more source

Renal dysfunction in symptomatic Waldenström macroglobulinaemia: A nationwide Italian multicentre study

British Journal of Haematology, EarlyView.
Renal dysfunction represents a possible underrecognized complication of symptomatic WM; this condition correlates with adverse global and disease‐specific clinical outcomes. Summary The prognostic significance of impaired renal function in Waldenström macroglobulinaemia (WM) remains poorly defined.
Nicolò Danesin, Francesco Autore, Anna Maria Frustaci, Gianmarco Favrin, Emanuele Cencini, Alessandro Noto, Irene Dogliotti, Jacopo Olivieri, Marcello Riva, Isacco Ferrarini, Anna Maria Barbui, Sara Steffanoni, Dario Marino, Benedetta Puccini, Piero Maria Stefani, Rita Rizzi, Michele Merli, Angela Ferrari, Stefano Luminari, Carlo Visco, Livio Trentin, Andrea Visentin, Annarita Conconi, Simone Ferrero, Marzia Varettoni, Alessandra Tedeschi, Luca Laurenti, Francesco Piazza   +27 more
wiley   +1 more source

A frameshift mutation in <i>JAZ10</i> resolves the growth versus defense dilemma in rice. [PDF]

Proc Natl Acad Sci U S A
Li LL, Xiao Y, Wang B, Zhuang Y, Chen Y, Lu J, Lou Y, Li R.   +7 more
europepmc   +1 more source

Identification of novel FGFR2::TXLNB Fusion in a polymorphous low‐grade neuroepithelial tumor of the young

Brain Pathology, EarlyView.
We report a novel FGFR2::TXLNB fusion in a child with hippocampal PLNTY. This fusion likely drives tumorigenesis via homodimerization and activation of MAPK/PI3K pathways, expanding PLNTY's molecular spectrum and suggesting a potential therapeutic target.
Sha‐Sha Hu, Tian‐Yuan Tan, Wei Yan, Bo Wang   +3 more
wiley   +1 more source

Novel homozygous frameshift mutation of ITGB3 in the Glanzmann thrombasthenia patient with abnormal bone metabolism and congenital bone defects. [PDF]

Orphanet J Rare Dis
Luo Y, Guo N, Wang Y, Li J.
europepmc   +1 more source

Malignant craniopharyngiomas: Institutional experience and literature review

Brain Pathology, EarlyView.
We report the second case of malignant craniopharyngioma with BAP1 and TP53 mutations. A literature review identified 44 cases of malignant craniopharyngiomas with a median overall survival of 6 months. Eighteen (41%) occurred in patients without any history of radiation, suggesting that mechanisms other than radiation have contributed to their ...
Thomas J. Auen, Isabella W. Zhang, Weiwei Zhang, Jordan M. Burr, Matthew L. Carda, James L. Wisecarver, Nicole Shonka, Jesse L. Cox, Sahara J. Cathcart, Allison Cushman‐Vokoun, Jie Chen   +10 more
wiley   +1 more source