Kimberly A Aldinger

Oct 23, 2024 | nature.com | Angela Peron |Kimberly A Aldinger |Christiane Zweier |Erica Andersen |Lynne M. Bird |Ange-Line Bruel | +11 more

AbstractAn increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.a. Dias-Logan syndrome) ascertained through an international collaborative network, and reviewed 35 additional previously reported patients.

Oct 23, 2024 | nature.com | Angela Peron |Kimberly A Aldinger |Christiane Zweier |Erica Andersen |Lynne M. Bird |Ange-Line Bruel | +11 more

AbstractAn increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.a. Dias-Logan syndrome) ascertained through an international collaborative network, and reviewed 35 additional previously reported patients.

Oct 4, 2024 | digitalcommons.library.tmc.edu | Sanxiong Liu |Kimberly A Aldinger |Takae Kiyama |Mitali Dave

AbstractThe heterogeneous family of complexes comprising Polycomb repressive complex 1 (PRC1) is instrumental for establishing facultative heterochromatin that is repressive to transcription. However, two PRC1 species, ncPRC1.3 and ncPRC1.5, are known to comprise novel components, AUTS2, P300, and CK2, that convert this repressive function to that of transcription activation.

Jul 18, 2024 | nature.com | Olivier Saulnier |Paul Jerard Layug |Kimberly A Aldinger |Christopher Porter |Stephane Richard |Brad Doble | +1 more

AbstractOTX2 is a transcription factor and known driver in medulloblastoma (MB), where it is amplified in a subset of tumours and overexpressed in most cases of group 3 and group 4 MB. Here we demonstrate a noncanonical role for OTX2 in group 3 MB alternative splicing. OTX2 associates with the large assembly of splicing regulators complex through protein–protein interactions and regulates a stem cell splicing program.

Jun 19, 2024 | onlinelibrary.wiley.com | Angela M Bard |Lindsay Clark |Erdal Coşgun |Kimberly A Aldinger

1 INTRODUCTION Sudden Infant Death Syndrome (SIDS) is defined as the sudden and unexpected death of an infant younger than one year, for which the cause of death remains unexplained despite a thorough investigation including a complete autopsy, and review of the circumstances of death along with review of the clinical history (American SIDS Institute, 2023). The term Sudden Unexpected Infant Death (SUID) is more encompassing.