Results 1 to 10 of about 8,590 (232)

Two Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report [PDF]

Biomedicines
The glycosylphosphatidylinositol (GPI) is a glycol–lipid that anchors several proteins to the cell surface. The GPI-anchor pathway is crucial for the correct function of proteins involved in cell function, and it is fundamental in early neurogenesis and ...
Francesco Dellepiane, Giulia Moltoni, Sara Ronci, Alessia Guarnera, Maria Camilla Rossi-Espagnet, Maria Cristina Digilio, Diego Martinelli, Francesca Campi, Daniela Longo   +8 more
doaj   +3 more sources

CLN5 in heterozygosis may protect against the development of tumors in a VHL patient [PDF]

Orphanet Journal of Rare Diseases, 2020
Von Hippel-Lindau syndrome (VHL) is a rare disease of dominant inheritance that increases susceptibility to tumor development, with a complete penetrance at the age of 60.
Isabel de Rojas-P, Virginia Albiñana, Lucía Recio-Poveda, Amanda Rodriguez-Rufián, Ángel M. Cuesta, Luisa-María Botella   +5 more
doaj   +5 more sources

Prox1-Heterozygosis Sensitizes the Pancreas to Oncogenic Kras-Induced Neoplastic Transformation

Neoplasia: An International Journal for Oncology Research, 2016
The current paradigm of pancreatic neoplastic transformation proposes an initial step whereby acinar cells convert into acinar-to-ductal metaplasias, followed by progression of these lesions into neoplasias under sustained oncogenic activity and ...
Yiannis Drosos, Geoffrey Neale, Jianming Ye, Leena Paul, Emin Kuliyev, Anirban Maitra, Anna L Means, M Kay Washington, Jerold Rehg, David B Finkelstein, Beatriz Sosa-Pineda   +10 more
doaj   +4 more sources

Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population

International Journal of Molecular Sciences, 2022
Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease due to mutations in the ddc gene producing AADC, a homodimeric pyridoxal 5′-phosphate-dependent enzyme.
Giovanni Bisello, M. Bertoldi
semanticscholar   +4 more sources

A de novo variant of the COL3A1 gene: causality of vascular Ehlers-Danlos syndrome [PDF]

Advances in Laboratory Medicine
To establish diagnosis of vascular Ehlers-Danlos syndrome (VEDS) through genetic testing. This syndrome is characterized by muscle and arterial ruptures and a tendency to easy brusing, thin skin with visible veins and acrogeric facial features that may ...
Gutiérrez Romero Estrella, Padilla Apuntate Nuria, Izquierdo Álvarez Silvia   +2 more
doaj   +2 more sources

Polyembryony, heterozygosis and chimeras in citrus

Hilgardia, 1926
Abstract does not appear. First page follows. Introduction The genus Citrus is characterized by remarkable genetic variability, both in seed reproduction and within clonal varieties. An F1 hybrid progeny usually exhibits great genetic diversity (Swingle, 1913a), suggesting the F2 generation from a cross between races differing in ...
H. Frost
semanticscholar   +2 more sources

Heterozigose para mutação no gene CYP21A2 considerada como deficiência de 21-hidroxilase na triagem neonatal [PDF]

Arquivos Brasileiros de Endocrinologia & Metabologia, 2008
Steroid 21-hydroxylase deficiency (21-OHD) accounts for more than 90% of congenital adrenal hyperplasia. CAH newborn screening, in general, is based on 17-hydroxyprogesterone dosage (17-OHP), however it is complicated by the fact that healthy preterm ...
Bernardi, Renan Darin, Coeli, Fernanda Borchers, Justo, Giselle Zenker, Lemos-Marini, Sofia Helena Valente de, Maturana, Víctor Gonçalves, Mello, Maricilda Palandi de, Silva, Márcia Duarte Barbosa da, Soardi, Fernanda Caroline   +7 more
core   +8 more sources

Audiological Phenotypes of Connexin Gene Mutation Patterns: A Glance at Different GJB2/GJB6 Gene Mutation Profiles [PDF]

Children
GJB2 mutations are the most common cause of autosomal-recessive non-syndromic sensorineural hearing loss (SNHL). The available evidence shows large phenotypic variability across different genotypes and allelic variants.
Leonardo Franz, Alessandro Incognito, Chiara Gallo, Licia Turolla, Elisa Scquizzato, Roberta Cenedese, Alessandro Matarazzo, Daniel Savegnago, Paolo Zanatta, Elisabetta Genovese, Cosimo de Filippis, Gino Marioni   +11 more
doaj   +2 more sources

Loss of heterozygosis on chromosome 18q21-23 and muscle-invasive bladder cancer natural history.

Oncology Letters, 2015
Loss of heterozygosis (LOH) on chromosome (Chr) 18q21-23 was reported to be one of the most common genetic alterations identified in bladder cancer. The current study aimed to determine the prognostic role of LOH on Chr 18q21-23 in patients diagnosed ...
T. Cai, N. Mondaini, D. Tiscione, M. Dal Canto, R. Santi, R. Bartoletti, G. Nesi   +6 more
semanticscholar   +6 more sources

Heterozygosis for hemoglobin Porto Alegre identified by a combination of laboratory diagnostic methodologies [PDF]

Revista Brasileira de Hematologia e Hemoterapia, 2012
Hemoglobin (Hb) Porto Alegre is a beta globin chain mutant [beta 9 (A6) Ser>Cys] that was initially described in a Caucasian Brazilian family in 1963(1). It was subsequentlyidentified in other families in Brazil and in other places such as Cuba and the Canary Islands.
Marcos José Cataldo, Ana Carolina Bonini-Domingos, Claudia Regina Bonini-Domingos   +2 more
doaj   +5 more sources