Results 231 to 240 of about 1,703,111 (346)

Clinicogenomic Landscape and Function of <i>PIK3CA</i>, <i>AKT1</i>, and <i>PTEN</i> Mutations in Breast Cancer. [PDF]

JCO Precis Oncol
Tao JJ, Sisoudiya SD, Tukachinsky H, Schrock AB, Ebot EM, Sivakumar S, Sokol ES, Vasan N.   +7 more
europepmc   +1 more source

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, EarlyView.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

Missense mutation of <i>BMP1</i> may cause feline osteogenesis imperfecta without bone deformity. [PDF]

J Vet Diagn Invest
Takanosu M, Aoki H, Toshima A, Kagawa Y.
europepmc   +1 more source

Inhibition of PRC2 Activity by a Gain-of-Function H3 Mutation Found in Pediatric Glioblastoma

Science, 2013
P. Lewis, Manuel M Müller, Matthew S. Koletsky, Francisco J. Cordero, Shu Lin, Laura A. Banaszynski, B. Garcia, T. Muir, O. Becher, C. Allis   +9 more
semanticscholar   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

Quantum chemical profiling of protein mutations via fragment-based DFT. [PDF]

Front Mol Biosci
Leyva A, Niazi MKK.
europepmc   +1 more source

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.

American Journal of Human Genetics, 2010
H. Christiansen, U. Schwarze, Shawna M. Pyott, A. Alswaid, M. A. Al Balwi, S. Alrasheed, M. Pepin, M. Weis, D. Eyre, P. Byers   +9 more
semanticscholar   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

Identification of potentially deleterious mutations in gastric cancer using patient-derived xenograft models. [PDF]

Front Genet
Kong L, Wang J, Zheng J, Yang X, Sun R, Kou J, Yao Y, Li F, Wang F, Guo S.   +9 more
europepmc   +1 more source

Clinical Characteristics and Gene Mutations of Hereditary Spherocytosis in 59 Chinese Children. [PDF]

Mol Genet Genomic Med
Li Y, Wang Y, Liu T, Xiao L, Huang L, Zhang Y, Xiang Y, Yu J.   +7 more
europepmc   +1 more source