Cargando…

De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf

BACKGROUND: Bovine frontonasal dysplasias like arhinencephaly, synophthalmia, cyclopia and anophthalmia are sporadic congenital facial malformations. In this study, computed tomography, necropsy, histopathological examinations and whole genome sequencing on an Illumina NextSeq500 were performed to c...

Descripción completa

Detalles Bibliográficos
Autores principales:	Braun, Marina, Lehmbecker, Annika, Eikelberg, Deborah, Hellige, Maren, Beineke, Andreas, Metzger, Julia, Distl, Ottmar
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7777292/ https://www.ncbi.nlm.nih.gov/pubmed/33388042 http://dx.doi.org/10.1186/s12864-020-07350-y

Ejemplares similares

Germline mutation within COL2A1 associated with lethal chondrodysplasia in a polled Holstein family
por: Reinartz, Sina, et al.
Publicado: (2017)

A recessive lethal chondrodysplasia in a miniature zebu family results from an insertion affecting the chondroitin sulfat domain of aggrecan
por: Struck, Ann-Kathrin, et al.
Publicado: (2018)

An FGA Frameshift Variant Associated with Afibrinogenemia in Dachshunds
por: Mischke, Reinhard, et al.
Publicado: (2021)

Frontonasal dysplasia: A case report
por: Lee, Se Il, et al.
Publicado: (2019)

Frontonasal dysplasia (Median cleft face syndrome)
por: Sharma, Seema, et al.
Publicado: (2012)

Morphometric magnetic resonance imaging and genetic testing in cerebellar abiotrophy in Arabian horses
por: Cavalleri, Jessika MV, et al.
Publicado: (2013)

Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles
por: Antoneli, Melissa Zattoni, et al.
Publicado: (2015)

Phenotypic classification of variability of non-syndromic congenital cleft lip and jaw in Vorderwald × Montbéliarde cattle
por: Reinartz, Sina, et al.
Publicado: (2015)

Frontonasal Dysplasia: A Diagnostic Challenge with Fetal MRI in Twin Pregnancy
por: Virupakshaiah, Akash, et al.
Publicado: (2023)

A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia
por: Vasiliadis, Danae, et al.
Publicado: (2018)

Nasal Reconstruction of a Frontonasal Dysplasia Deformity Using Aesthetic Rhinoplasty Techniques
por: Song, Sin Young, et al.
Publicado: (2015)

Identification of Quantitative Trait Loci (QTL) for Canine Hip Dysplasia and Canine Elbow Dysplasia in Bernese Mountain Dogs
por: Pfahler, Sophia, et al.
Publicado: (2012)

Bovinos limousin /
Publicado: (1978)

Frontonasal glioma – diagnostic difficulties
por: Iacob, Daniela, et al.
Publicado: (2021)

The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies – Phenotypic and Aetiological Considerations
por: Richieri-Costa, Antonio, et al.
Publicado: (2004)

Surgical Management of a Mild Case of Frontonasal Dysplasia: A Case Report and Review of Literature
por: Ainuz, Bar Y, et al.
Publicado: (2021)

Expression of the zic1, zic2, zic3, and zic4 genes in early chick embryos
por: McMahon, Ariel R, et al.
Publicado: (2010)

ALX1‐related frontonasal dysplasia results from defective neural crest cell development and migration
por: Pini, Jonathan, et al.
Publicado: (2020)

Identification and Validation of Quantitative Trait Loci (QTL) for Canine Hip Dysplasia (CHD) in German Shepherd Dogs
por: Fels, Lena, et al.
Publicado: (2014)

Congenital infection with Anaplasma phagocytophilum in a calf in northern Germany
por: Henniger, Thomas, et al.
Publicado: (2013)

Dermatosparaxis in two Limousin calves
por: Carty, Catherine I., et al.
Publicado: (2016)

X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle
por: Drögemüller, Cord, et al.
Publicado: (2003)

Correction to: Congenital infection with Anaplasma phagocytophilum in a calf in northern Germany
por: Henniger, Thomas, et al.
Publicado: (2019)

Anaesthetic Management in a Child with Frontonasal Encephalocele
por: Mahajan, Charu, et al.
Publicado: (2010)

Abstract 7: Novel Stem Cell Model of Frontonasal Dysplasia derived from Pedigree with ALX1-Mutation
por: Kueper, Janina, et al.
Publicado: (2019)

Alx1 Deficient Mice Recapitulate Craniofacial Phenotype and Reveal Developmental Basis of ALX1-Related Frontonasal Dysplasia
por: Iyyanar, Paul P. R., et al.
Publicado: (2022)

Productivité comparée de deux troupeaux de brebis Limousines et Romanov × Limousines en conduite intensive
por: Theriez, M, et al.
Publicado: (1977)

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia
por: Gong, Lei, et al.
Publicado: (2022)

Study of congenital Morgagnian cataracts in Holstein calves
por: Braun, Marina, et al.
Publicado: (2019)

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family
por: Castilla-Vallmanya, Laura, et al.
Publicado: (2021)

An epistatic effect of KRT25 on SP6 is involved in curly coat in horses
por: Thomer, Annika, et al.
Publicado: (2018)

Les « noisillures » en race bovine Limousine
por: Lauvergne, JJ
Publicado: (1977)

Screening of whole genome sequences identified high-impact variants for stallion fertility
por: Schrimpf, Rahel, et al.
Publicado: (2016)

Genome-Wide Linkage and Association Analysis Identifies Major Gene Loci for Guttural Pouch Tympany in Arabian and German Warmblood Horses
por: Metzger, Julia, et al.
Publicado: (2012)

Variant detection and runs of homozygosity in next generation sequencing data elucidate the genetic background of Lundehund syndrome
por: Metzger, Julia, et al.
Publicado: (2016)

Demographic assessment of the Dalmatian dog – effective population size, linkage disequilibrium and inbreeding coefficients
por: Vasiliadis, Danae, et al.
Publicado: (2020)

Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza
por: Schachler, Kathrin, et al.
Publicado: (2020)

Clinical, cytogenetic and molecular genetic characterization of a tandem fusion translocation in a male Holstein cattle with congenital hypospadias and a ventricular septal defect
por: Iannuzzi, Alessandra, et al.
Publicado: (2020)

Semilobar Holoprosencephaly Caused by a Novel and De Novo ZIC2 Pathogenic Variant
por: Nonkulovski, D, et al.
Publicado: (2023)

A Frameshift Mutation within LAMC2 Is Responsible for Herlitz Type Junctional Epidermolysis Bullosa (HJEB) in Black Headed Mutton Sheep
por: Mömke, Stefanie, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_cmnpj8nbff3k85a3hhdv6bpk6h