Results 31 to 40 of about 202,059 (264)

Comparative transcriptional analysis of homologous pathogenic and non-pathogenic Lawsonia intracellularis isolates in infected porcine cells. [PDF]

PLoS ONE, 2012
Lawsonia intracellularis is the causative agent of proliferative enteropathy. This disease affects various animal species, including nonhuman primates, has been endemic in pigs, and is an emerging concern in horses.
Fabio A Vannucci, Douglas N Foster, Connie J Gebhart   +2 more
doaj   +1 more source

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants [PDF]

Genetics in Medicine, 2019
Heritable thoracic aortic disease can result from null variants in MYLK, which encodes myosin light-chain kinase (MLCK). Data on which MYLK missense variants are pathogenic and information to guide aortic disease management are limited.Clinical data from 60 cases with MYLK pathogenic variants were analyzed (five null and two missense variants), and the
Wallace S. E., Regalado E. S., Gong L., Janda A. L., Guo D. -C., Russo C. F., Kulmacz R. J., Hanna N., Jondeau G., Boileau C., Arnaud P., Lee K., Leal S. M., Hannuksela M., Carlberg B., Johnston T., Antolik C., Hostetler E. M., Colombo R., Milewicz D. M.   +19 more
openaire   +3 more sources

Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals

Frontiers in Genetics, 2020
MUTYH-associated polyposis (MAP) is a rare hereditary condition caused by the biallelic mutation in the MUTYH gene encoding MUTYH glycosylase. This enzyme is a key member of the base excision repair (BER) pathway responsible for the repair of DNA lesions
Katarína Fabišíková, Olívia Hamidová, Regína Lohajová Behulová, Katarína Závodná, Petra Priščáková, Vanda Repiská   +5 more
doaj   +1 more source

A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine

BMC Neurology, 2019
Background To describe a patient with sleep alleviated episodic ataxia type 2 with a novel CACNA1A pathogenic variant and provide a possible link to sleep responsive migraine.
Abhimanyu S. Ahuja, Todd D. Rozen, Paldeep S. Atwal   +2 more
doaj   +1 more source

Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants [PDF]

Molecular Genetics & Genomic Medicine, 2019
AbstractBackgroundGlycophosphatidylinositol‐anchored proteins (GPI‐APs) mediate several physiological processes such as embryogenesis and neurogenesis. Germline variants in genes involved in their synthesis can disrupt normal development and result in a variety of clinical phenotypes.
Nissan Vida Baratang, Daniel Alexander Jimenez Cruz, Norbert Fonya Ajeawung, Thi Tuyet Mai Nguyen, Guillermo Pacheco‐Cuéllar, Philippe M. Campeau   +5 more
openaire   +3 more sources

Pathogenic Variants in GPC4 Cause Keipert Syndrome [PDF]

The American Journal of Human Genetics, 2019
Glypicans are a family of cell-surface heparan sulfate proteoglycans that regulate growth-factor signaling during development and are thought to play a role in the regulation of morphogenesis. Whole-exome sequencing of the Australian family that defined Keipert syndrome (nasodigitoacoustic syndrome) identified a hemizygous truncating variant in the ...
Amor, David J, Stephenson, Sarah E M, Mustapha, Mirna, Mensah, Martin A, Ockeloen, Charlotte W, Lee, Wei Shern, Tankard, Rick M, Phelan, Dean G, Shinawi, Marwan, de Brouwer, Arjan P M, Pfundt, Rolph, Dowling, Cari, Toler, Tomi L, Sutton, V Reid, Agolini, Emanuele, Rinelli, Martina, Capolino, Rossella, Martinelli, Diego, Zampino, Giuseppe, Dumić, Miroslav, Reardon, William, Shaw-Smith, Charles, Leventer, Richard J, Delatycki, Martin B, Kleefstra, Tjitske, Mundlos, Stefan, Mortier, Geert, Bahlo, Melanie, Allen, Nicola J, Lockhart, Paul J   +29 more
openaire   +6 more sources

Pathogenic Variants in SHROOM3 Associated with Hemifacial Microsomia

Journal of Human Genetics, 2023
Abstract Purpose: Hemifacial microsomia (HFM) is a rare congenital disorder that affects facial symmetry, ear development, and other congenital features. However, known causal genes only account for approximately 3% of patients, indicating the need to discover more pathogenic genes.
Qin, Li, Bing-Hua, Zhang, Qi, Chen, Yaoyao, Fu, Xiang, Zuo, Peng, Lu, Weiwei, Zhang, Bingqing, Wang   +7 more
openaire   +2 more sources

Health‐Related Social Needs in Children With Sickle Cell Disease Are Associated With Worse Health‐Related Quality of Life

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Children with sickle cell disease (SCD) face multiple acute and chronic medical complications that may impact their quality of life as reported by patients themselves. Health‐related social needs (HRSNs), such as food and housing insecurity, are common in people with SCD, but the association between HRSNs and patient‐reported ...
Sarah J. Marks, Molly Sonenklar, Cerelia Donald, Cecelia Valrie, Wally Smith, India Sisler   +5 more
wiley   +1 more source

Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data

BMC Genomics, 2018
Background The conventional variant calling of pathogenic alleles in exome and genome sequencing requires the presence of the non-pathogenic alleles as genome references.
Mahmoud Koko, Mohammed O. E. Abdallah, Mutaz Amin, Muntaser Ibrahim   +3 more
doaj   +1 more source

Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023
Background Data mining of electronic health records to identify patients suspected of familial hypercholesterolemia (FH) has been limited by absence of both phenotypic and genomic data in the same cohort.
Samuel S. Gidding, H. Lester Kirchner, Andrew Brangan, William Howard, Melissa A. Kelly, Kelly D. Myers, Kelly M. Morgan, Matthew T. Oetjens, Timothy C. Shuey, David Staszak, Natasha T. Strande, Nicole L. Walters, Kristen D. Yu, Katherine A. Wilemon, Marc S. Williams, Amy C. Sturm, Laney K. Jones   +16 more
doaj   +1 more source