Results 91 to 100 of about 114,676 (292)

Prognostic Impact of Histologic Subtypes in Mismatch Repair‐Deficient/Microsatellite Instability‐High Colorectal Cancer: A Single‐Center Retrospective Study of 1127 Stage 0–IV Patients

Annals of Gastroenterological Surgery, EarlyView.
ABSTRACT Background Deficient mismatch repair/microsatellite instability‐High (dMMR/MSI‐H) colorectal cancer (CRC) generally confers a favorable survival yet is paradoxically enriched for poorly differentiated (Por) histology, which is linked to aggressive behavior.
Tomoyuki Momma, Hirokazu Okayama, Sohei Hayashishita, Hiroya Suzuki, Masanori Katagata, Takuro Matsumoto, Daisuke Ujiie, Shun Chida, Wataru Sakamoto, Koji Kono   +9 more
wiley   +1 more source

FAMILIAL SAMD9L MUTATION WWTH VARIABLE CLINICAL PHENOTYPE OF MDS/AML MONOSOMY 7 AND APLASTIC ANEMIA: A CASE OF TWO AFFECTED SIBLINGS..

Leukemia Research Reports
Introduction: SAMD9L mutation has been associated with hematological malignancies. The mutation has diverse hematological phenotypes ranging from Myelodysplastic syndrome (MDS) to Acute myeloid leukemia (AML)involving chromosome 7 aberration and recently
K. Albiroty, A. Al Mughairy
doaj   +1 more source

RanBALL: An Ensemble Machine Learning Framework for Accurate Subtype Identification of Pediatric B‐Cell Acute Lymphoblastic Leukemia

Advanced Intelligent Systems, EarlyView.
Here, we present RanBALL, an ensemble random projection‐based model for accurate and cost‐effective identification of B‐cell acute lymphoblastic leukemia subtypes is presented. By preserving patient‐to‐patient distance after dimension reduction by random projection and ensemble learning, RanBALL can facilitate the discovery of B‐ALL subtype‐specific ...
Lusheng Li, Hanyu Xiao, Xinchao Wu, Zhenya Tang, Joseph D. Khoury, Jieqiong Wang, Shibiao Wan   +6 more
wiley   +1 more source

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

American Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova, Dusan Hrckulak, Veronika Zimolova, Felipe R. Lorenzo, Jihyun Song, Katerina Vecerkova, Olga Babosova, Linda Berkova, Vladimir Korinek, Steve Elliott, Josef T. Prchal   +10 more
wiley   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Incidence and Prognostic Impact of Deleterious Germline Mutations in Primary Advanced Ovarian Carcinoma Patients [PDF]

, 2023
Majdi Imterat, Philipp Harter, Kerstin Rhiem, Florian Heitz, Stephanie Schneider, Nicole Concin, Malak Moubarak, Julia Welz, Vasileios Vrentas, Alexander Traut, Eric Hahnen, Rita K. Schmutzler, Andreas du Bois, Beyhan Ataseven   +13 more
openalex   +1 more source

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

Germline and Somatic BRCA1/2 Mutations in 172 Chinese Women With Epithelial Ovarian Cancer

, 2020
Yan You, Lei Li, Junliang Lu, Huanwen Wu, Jing Wang, Jie Gao, Ming Wu, Zhiyong Liang   +7 more
openalex   +1 more source

No Evidence of Elevated Germline Mutation Accumulation Under Oxidative Stress in Caenorhabditis elegans [PDF]

, 2011
Joanna Joyner‐Matos, Laura C Bean, Heidi L. Richardson, Tammy Sammeli, Charles F. Baer   +4 more
openalex   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source