Publication: Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes
Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes
Date
Date
Date
Citations
Lourdes Frehner, B., Christen, M., Reichler, I. M., Jagannathan, V., Novacco, M., Riond, B., Peters, L. M., Sánchez-Andrade, J. S., Pieńkowska-Schelling, A., Schelling, C., Kipar, A., Leeb, T., & Balogh, O. (2023). Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes. PLoS Genetics, 19(6), e1010805. https://doi.org/10.1371/journal.pgen.1010805
Abstract
Abstract
Abstract
Pelger-Huët anomaly (PHA) in humans is an autosomal dominant hematological phenotype without major clinical consequences. PHA involves a characteristic hyposegmentation of granulocytes (HG). Human PHA is caused by heterozygous loss of function variants in the LBR gene encoding lamin receptor B. Bi-allelic variants and complete deficiency of LBR cause the much more severe Greenberg skeletal dysplasia which is lethal in utero and characterized by massive skeletal malformation and gross fetal hydrops. HG phenotypes have also been describ
Additional indexing
Creators (Authors)
- Lourdes Frehner, Bianca
- Christen, Matthias
- Jagannathan, Vidhya
- Peters, Laureen M
- Sánchez-Andrade, José Suárez
- Pieńkowska-Schelling, Aldona
- Schelling, Claude
- Kipar, Anja
- Leeb, Tosso
- Balogh, Orsolya
Volume
Volume
Volume
Number
Number
Number
Page range/Item number
Page range/Item number
Page range/Item number
Item Type
Item Type
Item Type
Keywords
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
OA Status
OA Status
OA Status
Free Access at
Free Access at
Free Access at
Publisher DOI
Other Identification Number
Other Identification Number
Other Identification Number
Citations
Lourdes Frehner, B., Christen, M., Reichler, I. M., Jagannathan, V., Novacco, M., Riond, B., Peters, L. M., Sánchez-Andrade, J. S., Pieńkowska-Schelling, A., Schelling, C., Kipar, A., Leeb, T., & Balogh, O. (2023). Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes. PLoS Genetics, 19(6), e1010805. https://doi.org/10.1371/journal.pgen.1010805
