Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis.

Autor: Syryn H; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Van de Velde J; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Department of Pediatric Endocrinology, Ghent University Hospital, Ghent, Belgium., De Clercq G; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Verdin H; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Dheedene A; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Peelman F; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Sinclair A; Royal Children's Hospital & Department of Paediatrics, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Australia., Ayers KL; Royal Children's Hospital & Department of Paediatrics, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Australia., Bathgate RAD; The Florey Institute and Department of Biochemistry and Pharmacology, University of Melbourne, Melbourne, Australia., Cools M; Department of Pediatric Endocrinology, Ghent University Hospital, Ghent, Belgium.; Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium., De Baere E; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.

Publikováno v: Human reproduction (Oxford, England) [Hum Reprod] 2024 Oct 01; Vol. 39 (10), pp. 2353-2363.

HRAS-related epidermal nevus syndromes: Expansion of the spectrum with first branchial arch defects.

Autor: Beyens A; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.; Department of Dermatology, Ghent University Hospital, Ghent, Belgium., Lietaer C; Department of Otorhinolaryngology, AZ Sint Jan Brugge-Oostende, Bruges, Belgium., Claes K; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium., De Baere E; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium., Goeteyn M; Department of Dermatology, AZ Sint Jan Brugge-Oostende, Bruges, Belgium., Lerut B; Department of Otorhinolaryngology, AZ Sint Jan Brugge-Oostende, Bruges, Belgium., Syryn H; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium., Vanakker O; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium., Van der Meulen J; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.; Molecular Diagnostics Ghent University Hospital (MDG), Ghent University Hospital, Ghent, Belgium., Vanwalleghem L; Department of Pathology, AZ Sint Jan Brugge-Oostende, Bruges, Belgium., Callewaert B; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.

Publikováno v: Clinical genetics [Clin Genet] 2023 Jun; Vol. 103 (6), pp. 709-713. Date of Electronic Publication: 2023 Mar 10.

Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies.

Autor: Beyens A; Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, 9000 Ghent, Belgium.; Department of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium., Dequeker L; Department of Ophthalmology, General Hospital Sint-Jan Brugge-Oostende, 8000 Bruges, Belgium.; Department of Ophthalmology, Ghent University Hospital, 9000 Ghent, Belgium., Brems H; Department of Human Genetics, University Hospital Leuven, 3000 Leuven, Belgium., Janssens S; Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, 9000 Ghent, Belgium., Syryn H; Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, 9000 Ghent, Belgium., D'Hooghe A; Department of Pediatrics, General Hospital Sint-Jan Brugge-Oostende, 8000 Bruges, Belgium., De Paepe P; Department of Pathology, General Hospital Sint-Jan Brugge-Oostende, 8000 Bruges, Belgium., Vanwalleghem L; Department of Pathology, General Hospital Sint-Jan Brugge-Oostende, 8000 Bruges, Belgium., Stockman A; Department of Dermatology, General Hospital Delta Roeselare-Menen-Torhout, 8820 Torhout, Belgium., Vankwikelberge E; Department of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium., De Schepper S; Department of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium., Goeteyn M; Department of Dermatology, General Hospital Sint-Jan Brugge-Oostende, 8000 Bruges, Belgium., Delbeke P; Department of Ophthalmology, General Hospital Sint-Jan Brugge-Oostende, 8000 Bruges, Belgium., Callewaert B; Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, 9000 Ghent, Belgium.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2022 Apr 06; Vol. 23 (7). Date of Electronic Publication: 2022 Apr 06.

SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development.

Autor: Brewer, Casey J.^1,2 (AUTHOR), Coyan, Alyxis G.¹ (AUTHOR), Smith, Nicki³ (AUTHOR), Jones, Brittany¹ (AUTHOR), Smolarek, Teresa A.^1,2 (AUTHOR), Liu, Jie^1,2 (AUTHOR) jie.liu@cchmc.org

Publikováno v: Molecular Genetics & Genomic Medicine. Nov2024, Vol. 12 Issue 11, p1-7. 7p.

COUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitors.

Autor: Ferreira, Lucas G. A.^1,2 (AUTHOR), Kizys, Marina M. L.¹ (AUTHOR), Gama, Gabriel A. C.¹ (AUTHOR), Pachernegg, Svenja^2,3 (AUTHOR), Robevska, Gorjana² (AUTHOR), Sinclair, Andrew H.^2,3 (AUTHOR), Ayers, Katie L.^2,3 (AUTHOR), Dias-da-Silva, Magnus R.¹ (AUTHOR) mrdsilva@unifesp.br

Publikováno v: Cell & Bioscience. 1/4/2024, Vol. 14 Issue 1, p1-15. 15p.