Results 11 to 20 of about 429,966 (219)

Derivation of healthy hepatocyte-like cells from a female patient with ornithine transcarbamylase deficiency through X-inactivation selection

Scientific Reports, 2022
Autologous cell replacement therapy for inherited metabolic disorders requires the correction of the underlying genetic mutation in patient’s cells. An unexplored alternative for females affected from X-linked diseases is the clonal selection of cells ...
Ramon Santamaria, Maria Ballester, Guillem Garcia-Llorens, Francisco Martinez, Marina Blazquez, Carmen Ribes-Koninckx, Jose V. Castell, Torsten Wuestefeld, Roque Bort   +8 more
doaj   +1 more source

Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18

Frontiers in Immunology, 2022
Review: Interleukin-18 (IL-18) is a proinflammatory cytokine that promotes various innate immune processes related to infection, inflammation, and autoimmunity.
Hanae Miyazawa, Taizo Wada
doaj   +1 more source

Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1

Frontiers in Pediatrics, 2021
Herein, we present a rare case of co-occurring Duchenne muscular dystrophy (DMD) and frontometaphyseal dysplasia 1 (FMD1), two different X-linked diseases, in a 7-year-old boy.
Jaewon Kim, Dong-Woo Lee, Ja-Hyun Jang, Myungshin Kim, Jisook Yim, Dae-Hyun Jang   +5 more
doaj   +1 more source

PRENATAL DIAGNOSIS [PDF]

Romanian Journal of Pediatrics, 2009
Another reproductive option that is now available is prenatal diagnosis. By utilizing increasingly sophisticated technology, many congenital malformations and genetic defects can now be diagnosed prior to twenty weeks of pregnancy. The authors present:
Valeriu Popescu, Andrei Zamfirescu
doaj   +1 more source

X-linked hypophosphatemic rickets: case report with perspectives and challenges [PDF]

Einstein (São Paulo)
X-linked dominant hypophosphatemic rickets (XLH) is a rare genetic disorder caused by mutations in the PHEX gene and characterized by chronic hypophosphatemia due to dysregulation of fibroblast growth factor 23 (FGF23).
Beatriz Almeida Ribeiro, Henrique Massashi Soga, Fernanda Teresa de Lima, Amancio Ramalho Júnior, Cintia Giunchetti Strabelli Nascimento, Eduardo Juan Troster, Teresa Cristina Gomes Alfinito Vieira   +6 more
doaj   +2 more sources

Zebrafish Models of Autosomal Dominant Ataxias

Cells, 2021
Hereditary dominant ataxias are a heterogeneous group of neurodegenerative conditions causing cerebellar dysfunction and characterized by progressive motor incoordination.
Ana Quelle-Regaldie, Daniel Sobrido-Cameán, Antón Barreiro-Iglesias, María Jesús Sobrido, Laura Sánchez   +4 more
doaj   +1 more source

ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene

Computational and Structural Biotechnology Journal, 2020
ATP7A is a critical copper transporter involved in Menkes Disease, Occipital horn Syndrome and X-linked distal spinal muscular atrophy type 3 which are X linked genetic disorders.
Aditi Mhaske, K.V. Dileep, Mukesh Kumar, Mukta Poojary, Kavita Pandhare, Kam Y.J. Zhang, Vinod Scaria, B.K. Binukumar   +7 more
doaj   +1 more source

Long noncoding RNA XIST: Mechanisms for X chromosome inactivation, roles in sex-biased diseases, and therapeutic opportunities

Genes and Diseases, 2022
Sexual dimorphism has been reported in various human diseases including autoimmune diseases, neurological diseases, pulmonary arterial hypertension, and some types of cancers, although the underlying mechanisms remain poorly understood.
Jianjian Li, Zhe Ming, Liuyi Yang, Tingxuan Wang, Gaowen Liu, Qing Ma   +5 more
doaj   +1 more source

Retrospective diagnosis of X-linked hyper-IgM syndrome in a family with multiple deaths of affected males

Haematologica, 2007
All males in two generations of a Hungarian family died of interstitial pneumonia. History and records suggested X-linked hyper-IgM syndrome (X-HIGM). DNA sequencing of a female carrier revealed a c.
Melinda Erdos, Krisztina Alapi, László Maródi   +2 more
doaj   +1 more source

Over-expression of XIST, the Master Gene for X Chromosome Inactivation, in Females With Major Affective Disorders

EBioMedicine, 2015
Background: Psychiatric disorders are common mental disorders without a pathological biomarker. Classic genetic studies found that an extra X chromosome frequently causes psychiatric symptoms in patients with either Klinefelter syndrome (XXY) or Triple X
Baohu Ji, Kerin K. Higa, John R. Kelsoe, Xianjin Zhou   +3 more
doaj   +1 more source