Results 41 to 50 of about 1,866,513 (309)

A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report

BMC Medical Genetics, 2019
Background Polydactyly is one of the most common congenital hand/foot malformations in humans. Mutations in GLI3 have been reported to cause syndromic and non-syndromic forms of preaxial and postaxial polydactylies.
Qianqian Zou, Zhigang Tian, Jie Zheng, Xiufang Zhi, Xiaojie Du, Jianbo Shu, Chunquan Cai   +6 more
doaj   +1 more source

Frequency of Mutation katG S315T Mycobacterium Tuberculosis in Multi Drug Resistance Tuberculosis Patients in South Sumatera

International Journal of Infectious Diseases, 2022
Purpose: Indonesia is ranked as the fifth highest case of MDR TB in the world. MDR TB occurs due to resistance to Rifampicin and INH drugs caused by mutations in the M.Tb gene.
A. Fathurrachman, R.L. Andriani, Z. Ahmad   +2 more
doaj   +1 more source

Production of α1,3-galactosyltransferase-deficient pigs [PDF]

, 2003
The enzyme α1,3-galactosyltransferase (α1,3GT or GGTA1) synthesizes α1,3galactose (α1,3Gal) epitopes (Galα1,3Galβ1,4GlcNAc-R), which are the major xenoantigens causing hyperacute rejection in pig-to-human xenotransplantation.
Ayares, DL, Ball, S, Bertera, S, Boone, J, Bottino, R, Chen, SH, Dai, Y, Demetris, AJ, Garst, AS, Jobst, PM, Koike, C, Lamborn, AE, Monahan, JA, Moore, M, Phelps, CJ, Polejaeva, IA, Rudert, WA, Sharma, SB, Specht, SM, Starzl, TE, Trucco, M, Vaught, TD, Wells, KD   +22 more
core   +1 more source

Survival Outcomes and Complications Among Canadian Children With Retinoblastoma: A Population‐Based Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Retinoblastoma (RB) is the most common pediatric ocular cancer, yet population‐based data on survival and risk factors remain limited. This study aimed to describe survival in a large national RB cohort and identify predictors of death and complications.
Samuel Sassine, Ofélie Trudeau‐Ferrin, Caroline Laverdière, Patrick Hamel, Rosanne Superstein, Bénédicte Koukoui, Carole Provost, Paul C. Nathan, Vijay Ramaswamy, Furqan Shaikh, Brenda Gallie, Ashwin Mallipatna, Stephanie Kletke, Helen Dimaras, Hallie Coltin   +14 more
wiley   +1 more source

Characterization of wheat oligo‐tiller mutant ot2 and fine mapping of the mutant gene Taot2

The Plant Genome
Tiller number is a crucial determinant of grain yield in wheat (Triticum aestivum L.), and identifying functional alleles can enhance our understanding of wheat tiller development. Here, we describe the ot2 wheat mutant, which exhibits a 91% reduction in
Chenxi Wang, Jiaxing Bai, Hongchun Xiong, Yongdun Xie, Jiayu Gu, Linshu Zhao, Huiyuan Li, Yuping Ding, Xinmei Guo, Huijun Guo, Luxiang Liu   +10 more
doaj   +1 more source

Poikiloderma with novel gene mutation

Indian Journal of Paediatric Dermatology, 2020
Poikiloderma is characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. It is a common cutaneous finding in a number of genodermatoses.
Sunanda Mahajan, Anuja Sunkwad, Bhushan Darkase, Uday Khopkar   +3 more
doaj   +1 more source

Sirolimus for Extracranial Arteriovenous Malformations: A Scoping Review of the Evidence in Syndromic and Non‐Syndromic Cases

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Arteriovenous malformations (AVMs) are rare, high‐flow, vascular anomalies that can occur either sporadically or as part of a genetic syndrome. AVMs can progress with serious morbidity and even mortality if left unchecked. Sirolimus is an mTOR inhibitor that is effective in low‐flow vascular malformations; however, its role in AVMs is unclear.
Will Swansson, Ingrid Winship, Gary Hammerschlag, Laura Scardamaglia   +3 more
wiley   +1 more source

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

Association Between Patient Characteristics and Diet Profile with Kirsten rat sarcoma Kras and Neuroblastoma rat sarcoma (Nras) Gene Mutation in Colorectal Cancer

The Indonesian Journal of Gastroenterology, Hepatology and Digestive Endoscopy, 2020
Background: Colorectal cancer is the third most common cancer according to American Cancer Society. It is also the third most common cause of death in men and women in US.
Dedy Indra Praja, Helena Helena, Bogi Pratomo   +2 more
doaj   +1 more source

A novel mutation in SACS gene in a family from southern Italy [PDF]

, 2004
A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC),
BANFI S, CRISCUOLO C, DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO, GASPARINI P, MONTICELLI A, ORIO M, PERRETTI, ANNA CARMELA AGNESE, SANTORELLI FM, SANTORO, LUCIO, SCARANO V   +10 more
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