Results 21 to 30 of about 3,322,892 (202)

Impact of RB1 gene mutation type in retinoblastoma patients on clinical presentation and management outcome

Hematology/Oncology and Stem Cell Therapy, 2020
Objective/background: Retinoblastoma (RB), the most common intraocular malignancy in children, is caused by biallelic inactivation of the human retinoblastoma susceptibility gene (RB1).
Mustafa Mehyar, Mohammad Mosallam, Abdelghani Tbakhi, Ala Saab, Iyad Sultan, Rasha Deebajah, Imad Jaradat, Reem AlJabari, Mona Mohammad, Ibrahim AlNawaiseh, Maysa Al-Hussaini, Yacoub A. Yousef   +11 more
doaj   +1 more source

BAP1 missense mutation c.2054 A>T (p.E685V) completely disrupts normal splicing through creation of a novel 5' splice site in a human mesothelioma cell line. [PDF]

PLoS ONE, 2015
BAP1 is a tumor suppressor gene that is lost or deleted in diverse cancers, including uveal mela¬noma, malignant pleural mesothelioma (MPM), clear cell renal carcinoma, and cholangiocarcinoma.
Arianne Morrison, Yvonne Chekaluk, Ruben Bacares, Marc Ladanyi, Liying Zhang   +4 more
doaj   +1 more source

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4 [PDF]

, 2019
Pathogenic variants in the ATP-binding cassette transporter A4 (ABCA4) gene cause a continuum of retinal disease phenotypes, including Stargardt disease.
Weisschuh, Nicole, Bauwens, MiriamGE310000706455048020013013510000-0003-0402-900609227D4E-F0EE-11E1-A9DE-61C894A0A6B4, Cornelis, Stephanie S, Cremers, Frans PM, Gorin, Michael B, Cornelis, Stéphanie S., Roosing, Susanne, Ayuso, Carmen, Bauwens, Miriam, Gorin, Michael B., Tayebi, Naeimeh, Del Pozo‐Valero, Marta, Cremers, Frans P. M., Vincent, Andrea, Allikmets, Rando, Keramatipour, Mohammad, Simonelli, Francesca, Del Pzo-oValero, Marta, Ghofrani, Mohammad, Khan, Mubeen, Andrea, Vincent, ABCA4 Study Group, The, Fadaie, Zeinab   +22 more
core   +1 more source

Novel de novo BRCA2 mutation in a patient with a family history of breast cancer

BMC Medical Genetics, 2008
Background BRCA2 germ-line mutations predispose to breast and ovarian cancer. Mutations are widespread and unclassified splice variants are frequently encountered.
Eiberg Hans, Filtenborg-Barnkob Bettina, Albrechtsen Anders, Jønson Lars, Bisgaard Marie, Hansen Thomas, Ejlertsen Bent, Nielsen Finn C   +7 more
doaj   +1 more source

Epidermolysis Bullosa in Calves in the United Kingdom [PDF]

, 2010
Epidermolysis bullosa (EB) was diagnosed in eight calves from four farms in the United Kingdom on the basis of clinical, histological and ultrastructural findings. In three affected herds, pedigree Simmental bulls had been mated with Simmental-cross cows.
Skuse, A.M., Philbey, A W, Higgins, R J, Fraser, M., Thompson, H., Higgins, R.J., Day, M J, Foster, A.P., Higgins, R. J., Fraser, M.A., Day, M.J., Philbey, A. W., Thomson, J., Skuse, A M, Fraser, M A, Philbey, A., Foster, A P, Bowden, P E, Bowden, P.E., Barrett, D. C., Thomson, J. R., Bowden, P. E., Fraser, Mary, Day, M. J., Thomson, J R, Thompson, H, Barrett, D C, Fraser, M. A., Barrett, D.C., Skuse, A. M., Bowden, Paul Edward, Foster, A. P.   +31 more
core   +1 more source

A Novel Splice-Site Variation in COL5A1 Causes Keratoconus in an Indian Family

Journal of Ophthalmology, 2019
Objective. This study aims to clarify the association between keratoconus (KC) and potential pathogenic genetic variants in a three-generation South Indian family. Methods.
Qinghong Lin, Lin Zheng, Zhengwei Shen, Liming Jie   +3 more
doaj   +1 more source

A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement. [PDF]

PLoS ONE, 2011
BackgroundThe Ehlers-Danlos Syndrome (EDS) is a heritable connective tissue disorder characterized by hyperextensible skin, joint hypermobility and soft tissue fragility.
Sofie Symoens, Fransiska Malfait, Philip Vlummens, Trinh Hermanns-Lê, Delfien Syx, Anne De Paepe   +5 more
doaj   +1 more source

Mutation-derived non-canonical 5’ splice site at position 27 results in truncated exon 7.

, 2019
Mutation-derived non-canonical 5’ splice site at position 27 results in truncated exon 7.
Derrick J. Reynolds (2811250), Klemens J. Hertel (7460564)   +1 more
core   +1 more source

Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis

Clinical Case Reports, 2021
Autosomal recessive congenital ichthyosis (ARCI) is a rare form of keratinization disorder of the skin, which can be caused by mutations in 14 ARCI genes.
Haiyan Tang, Xiaoliu Shi, Guiying Zhang
doaj   +1 more source

Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K

, 2014
Class IA phosphatidylinositol 3-kinases (PI3K), which generate PIP3 as a signal for cell growth and proliferation, exist as an intracellular complex of a catalytic subunit bound to a regulatory subunit.
ÖZEN, AHMET OĞUZHAN
core   +1 more source