×
About 75,410 results

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
https://doi.org/10.1056/NEJMoa1307362
The New England Journal of Medicine; Navon Elkan P, Pierce SB et. al.

Feb 20th, 2014 - Polyarteritis nodosa is a systemic necrotizing vasculitis with a pathogenesis that is poorly understood. We identified six families with multiple cases of systemic and cutaneous polyarteritis nodosa, consistent with autosomal recessive inheritance. In most cases, onset of the disease occurred during childhood. We carried out exome sequencing in persons from multiply affected families of Georgia...

Integrated analysis of somatic mutations and focal copy-number changes identifies key g...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819251
Nature Genetics; Guichard C, Amaddeo G et. al.

May 8th, 2012 - Hepatocellular carcinoma (HCC) is the most common primary liver malignancy. Here, we performed high-resolution copy-number analysis on 125 HCC tumors and whole-exome sequencing on 24 of these tumors. We identified 135 homozygous deletions and 994 somatic mutations of genes with predicted functional consequences. We found new recurrent alterations in four genes (ARID1A, RPS6KA3, NFE2L2 and IRF2)...

FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis.
https://doi.org/10.1016/j.gene.2017.06.033
Gene Radha Rama Devi A, Panday NN et. al.

Jun 21st, 2017 - The Forkhead box N1 (FOXN1) is a transcriptional factor regulating the development, differentiation and function of thymic epithelial cells; maintaining T-lineage progenitors in bone marrow; promoting terminal differentiation of epithelial cells of hair follicles. Mutation in FOXN1 was reported to cause a rare disorder characterized by rudimentary thymus gland, T-cell immunodeficiency, congenit...

A dominant-negative GFI1B mutation in the gray platelet syndrome.
https://doi.org/10.1056/NEJMoa1308130
The New England Journal of Medicine; Monteferrario D, Bolar NA et. al.

Dec 11th, 2013 - The gray platelet syndrome is a hereditary, usually autosomal recessive bleeding disorder caused by a deficiency of alpha granules in platelets. We detected a nonsense mutation in the gene encoding the transcription factor GFI1B (growth factor independent 1B) that causes autosomal dominant gray platelet syndrome. Both gray platelets and megakaryocytes had abnormal marker expression. In addition...

Identification of cell-type-specific mutations in nodal T-cell lymphomas.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5301031
Blood Cancer Journal; Nguyen TB, Sakata-Yanagimoto M et. al.

Feb 5th, 2017 - Recent genetic analysis has identified frequent mutations in ten-eleven translocation 2 (TET2), DNA methyltransferase 3A (DNMT3A), isocitrate dehydrogenase 2 (IDH2) and ras homolog family member A (RHOA) in nodal T-cell lymphomas, including angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified. We examined the distribution of mutations in these subtypes of m...

Repression of osteocyte Wnt/β-catenin signaling is an early event in the progression of...
https://doi.org/10.1002/jbmr.1630
Journal of Bone and Mineral Research : the Official Journ... Sabbagh Y, Graciolli FG et. al.

Apr 11th, 2012 - Chronic kidney disease-mineral bone disorder (CKD-MBD) is defined by abnormalities in mineral and hormone metabolism, bone histomorphometric changes, and/or the presence of soft-tissue calcification. Emerging evidence suggests that features of CKD-MBD may occur early in disease progression and are associated with changes in osteocyte function. To identify early changes in bone, we utilized the ...

High Frequency of Blackwater Fever Among Children Presenting to Hospital With Severe Fe...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5848229
Clinical Infectious Diseases : an Official Publication Of... Olupot-Olupot P, Engoru C et. al.

Mar 31st, 2017 - In the Fluid Expansion as a Supportive Treatment (FEAST) trial, an unexpectedly high proportion of participants from eastern Uganda presented with blackwater fever (BWF). We describe the prevalence and outcome of BWF among trial participants and compare the prevalence of 3 malaria-protective red blood cell polymorphisms in BWF cases vs both trial (non-BWF) and population controls. Of 3170 trial...

Finding the fertile woman with phenylketonuria.
https://doi.org/10.1016/j.ejogrb.2007.12.011
European Journal of Obstetrics, Gynecology, and Reproduct... Hanley WB

Feb 11th, 2008 - This review highlights two groups of women with phenylketonuria (PKU) who are at risk of producing offspring with maternal phenylketonuria (MPKU) embryopathy: (I) those not yet diagnosed; (II) those lost to follow-up. The world literature is reviewed, including that published from the International MPKU Collaborative Study (MPKUCS) and evidence is presented to support our hypothesis that at lea...

Preimplantation genetic diagnosis for hemoglobinopathies.
https://doi.org/10.3109/03630269.2011.608457
Hemoglobin Kuliev A, Pakhalchuk T et. al.

Sep 13th, 2011 - Hemoglobinopathies are the most frequent indications for preimplantation genetic diagnosis (PGD), allowing couples at-risk of bearing offspring with thalassemia and sickle cell disease to reproduce without fear of having an affected child. The present experience includes PGD for sickle cell disease, α- and β-thalassemia (α- and β-thal). We present here the results of the world's largest experie...

Endothelial-to-mesenchymal transition in pulmonary hypertension.
https://doi.org/10.1161/CIRCULATIONAHA.114.008750
Circulation Ranchoux B, Antigny F et. al.

Jan 16th, 2015 - The vascular remodeling responsible for pulmonary arterial hypertension (PAH) involves predominantly the accumulation of α-smooth muscle actin-expressing mesenchymal-like cells in obstructive pulmonary vascular lesions. Endothelial-to-mesenchymal transition (EndoMT) may be a source of those α-smooth muscle actin-expressing cells. In situ evidence of EndoMT in human PAH was obtained by using con...

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.
https://doi.org/10.1007/s10048-012-0319-8
Neurogenetics Smith MJ, Wallace AJ et. al.

Mar 21st, 2012 - Mutations of the SMARCB1 gene have been implicated in several human tumour predisposing syndromes. They have recently been identified as an underlying cause of the tumour suppressor syndrome schwannomatosis. There is a much higher rate of mutation detection in familial disease than in sporadic disease. We have carried out extensive genetic testing on a cohort of familial and sporadic patients w...

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
https://doi.org/10.1093/brain/awu272
Brain : a Journal of Neurology; Böhm J, Biancalana V et. al.

Sep 27th, 2014 - Centronuclear myopathies are congenital muscle disorders characterized by type I myofibre predominance and an increased number of muscle fibres with nuclear centralization. The severe neonatal X-linked form is due to mutations in MTM1, autosomal recessive centronuclear myopathy with neonatal or childhood onset results from mutations in BIN1 (amphiphysin 2), and dominant cases were previously as...

Acute myeloid leukemia with translocation t(8;16) presents with features which mimic ac...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382928
Leukemia Research; Diab A, Zickl L et. al.

Oct 29th, 2012 - Previous small series have suggested that acute myeloid leukemia with t(8;16) is a distinct morphologic and clinical entity associated with poor prognosis. We describe 18 patients with t(8;16) AML, including their clinical, cytomorphologic, immunophenotypic and cytogenetic features. Half of the patients had extramedullary disease, most commonly leukemia cutis, which often preceded bone marrow i...

A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom...
https://doi.org/10.1016/j.clineuro.2012.01.032
Clinical Neurology and Neurosurgery; Koyama S, Kawanami T et. al.

Feb 17th, 2012 - A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene.|2012|Koyama S,Kawanami T,Tanji H,Arawaka S,Wada M,|pathology,therapeutic use,therapeutic use,genetics,blood,genetics,etiology,genetics,genetics,complications,drug therapy,genetics,

No evidence of locus heterogeneity in familial microcephaly with or without chorioretin...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464120
Orphanet Journal of Rare Diseases; Schlögel MJ, Mendola A et. al.

May 2nd, 2015 - Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF1...

Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
https://doi.org/10.1038/ng.2599
Nature Genetics; Dibbens LM, de Vries B et. al.

Apr 1st, 2013 - The majority of epilepsies are focal in origin, with seizures emanating from one brain region. Although focal epilepsies often arise from structural brain lesions, many affected individuals have normal brain imaging. The etiology is unknown in the majority of individuals, although genetic factors are increasingly recognized. Autosomal dominant familial focal epilepsy with variable foci (FFEVF) ...

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic cri...
https://doi.org/10.1016/j.braindev.2009.02.004
Brain & Development; Artuso R, Mencarelli MA et. al.

Apr 13th, 2009 - Rett syndrome is a severe neurodevelopmental disorder affecting almost exclusively females. Among Rett clinical variants, the early-onset seizure variant describes girls with early onset epilepsy and it is caused by mutations in CDKL5. Four previously reported girls and five new cases with CDKL5 mutation, ranging from 14 months to 13 years, were evaluated by two clinical geneticists, classified...

Mutations of multiple genes cause deregulation of NF-kappaB in diffuse large B-cell lym...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2973325
Nature Compagno M, Lim WK et. al.

May 4th, 2009 - Diffuse large B-cell lymphoma (DLBCL), the most common form of lymphoma in adulthood, comprises multiple biologically and clinically distinct subtypes including germinal centre B-cell-like (GCB) and activated B-cell-like (ABC) DLBCL. Gene expression profile studies have shown that its most aggressive subtype, ABC-DLBCL, is associated with constitutive activation of the NF-kappaB transcription c...

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mecha...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4045499
Acta Neuropathologica; Fink JK

Jul 30th, 2013 - Hereditary spastic paraplegia (HSP) is a syndrome designation describing inherited disorders in which lower extremity weakness and spasticity are the predominant symptoms. There are more than 50 genetic types of HSP. HSP affects individuals of diverse ethnic groups with prevalence estimates ranging from 1.2 to 9.6 per 100,000. Symptoms may begin at any age. Gait impairment that begins after chi...

Lumacaftor/Ivacaftor Treatment of Patients with Cystic Fibrosis Heterozygous for F508de...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5461999
Annals of the American Thoracic Society; Rowe SM, McColley SA et. al.

Nov 29th, 2016 - In a prior study, lumacaftor/ivacaftor treatment (≤28 d) in patients with cystic fibrosis (CF) heterozygous for F508del-CFTR did not improve lung function. To evaluate an optimized lumacaftor/ivacaftor dosing regimen with a longer duration in a cohort of patients heterozygous for F508del-CFTR. Patients aged 18 years or older with a confirmed CF diagnosis and percent predicted FEV1 (ppFEV1) of 4...