Somatic Activating ESR1 Mutation in an Aggressive Prolactinoma.

Autor: Paes T; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA., Buelvas Mebarak J; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA., Magnotto JC; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA., Stamatiades GA; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA., Kuang Y; Department of Medical Oncology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA., Paweletz C; Department of Medical Oncology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA., Laws ER; Department of Neurosurgery, Brigham and Women's Hospital and Harvard Medical School, Boston, MA., Grosek N; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA., Carroll RS; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA., Jeselsohn R; Department of Medical Oncology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA., Mohan DR; Department of Medicine, Washington University School of Medicine, St. Louis, MO., Lerario AM; Department of Internal Medicine, Division of Metabolism, Endocrinology, and Diabetes, University of Michigan, Ann Arbor, MI., Truong MT; Department of Radiation Oncology, Boston University Medical Center, Boston, MA., Bi WL; Department of Neurosurgery, Brigham and Women's Hospital and Harvard Medical School, Boston, MA., Reardon DA; Department of Medical Oncology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA., Meredith DM; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA., Kaiser UB; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA., Abreu AP; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Sep 06. Date of Electronic Publication: 2024 Sep 06.

Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.

Autor: Gourgas O; Department of Medicine, McGill University, Montreal, QC, Canada., Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Eaton AJ; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; University of Alberta, Edmonton, AB, Canada., Alshahrani S; Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montreal, QC, Canada.; Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia., Duker AL; Nemours Children's Health, Wilmington, DE, USA., Li J; Department of Medicine, McGill University, Montreal, QC, Canada., Carroll RS; Nemours Children's Health, Wilmington, DE, USA., Mackenzie S; Nemours Children's Health, Wilmington, DE, USA., Nikkel SM; University of British Columbia, Vancouver, BC, Canada., Bober MB; Nemours Children's Health, Wilmington, DE, USA., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Murshed M; Department of Medicine, McGill University, Montreal, QC, Canada. monzur.murshed@mcgill.ca.; Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montreal, QC, Canada. monzur.murshed@mcgill.ca.; Shriners Hospitals for Children - Canada, Montreal, QC, Canada. monzur.murshed@mcgill.ca.

Publikováno v: Nature communications [Nat Commun] 2024 Apr 30; Vol. 15 (1), pp. 3655. Date of Electronic Publication: 2024 Apr 30.

Heterozygous FOXJ1 Mutations Cause Incomplete Ependymal Cell Differentiation and Communicating Hydrocephalus.

Autor: Hou CC; Department of Neurological Surgery, University of Massachusetts Chan Medical School, 55 Lake Avenue North, Worcester, MA, 01655, USA., Li D; Department of Neurological Surgery, University of Massachusetts Chan Medical School, 55 Lake Avenue North, Worcester, MA, 01655, USA., Berry BC; Department of Neurological Surgery, University of Massachusetts Chan Medical School, 55 Lake Avenue North, Worcester, MA, 01655, USA., Zheng S; Department of Neurological Surgery, University of Massachusetts Chan Medical School, 55 Lake Avenue North, Worcester, MA, 01655, USA., Carroll RS; Department of Neurological Surgery, University of Massachusetts Chan Medical School, 55 Lake Avenue North, Worcester, MA, 01655, USA., Johnson MD; Department of Neurological Surgery, University of Massachusetts Chan Medical School, 55 Lake Avenue North, Worcester, MA, 01655, USA. mark.johnson3@umassmemorial.org.; UMass Memorial Health, Worcester, MA, 01655, USA. mark.johnson3@umassmemorial.org., Yang HW; Department of Neurological Surgery, University of Massachusetts Chan Medical School, 55 Lake Avenue North, Worcester, MA, 01655, USA. hongwei.yang@umassmed.edu.

Publikováno v: Cellular and molecular neurobiology [Cell Mol Neurobiol] 2023 Nov; Vol. 43 (8), pp. 4103-4116. Date of Electronic Publication: 2023 Aug 24.

OSR1 disruption contributes to uterine factor infertility via impaired Müllerian duct development and endometrial receptivity.

Autor: Lofrano-Porto A; Molecular Pharmacology Laboratory (FARMOL), Faculty of Health Sciences, University of Brasilia, Brasilia-DF, Brazil.; Section of Endocrinology, Gonadal and Adrenal Diseases Clinics, University Hospital of Brasilia, Brasilia-DF, Brazil.; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Pereira SA; Molecular Pharmacology Laboratory (FARMOL), Faculty of Health Sciences, University of Brasilia, Brasilia-DF, Brazil.; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Dauber A; Division of Endocrinology, Children's National Hospital, Washington, DC, USA.; Department of Pediatrics, George Washington School of Medicine and Health Sciences, Washington, DC, USA., Bloom JC; Whitehead Institute for Biomedical Research, Cambridge, Massachusetts, USA., Fontes AN; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Asimow N; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA., de Moraes OL; Molecular Pharmacology Laboratory (FARMOL), Faculty of Health Sciences, University of Brasilia, Brasilia-DF, Brazil., Araujo PAT; Molecular Pharmacology Laboratory (FARMOL), Faculty of Health Sciences, University of Brasilia, Brasilia-DF, Brazil., Abreu AP; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Guo MH; Division of Endocrinology, Boston Children's Hospital, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA., De Oliveira SF; Department of Genetics and Morphology, Institute of Biology, University of Brasilia, Brasilia-DF, Brazil.; Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA., Liu H; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Lee C; Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA., Kuohung W; Department of Obstetrics and Gynecology, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA., Coelho MS; Molecular Pharmacology Laboratory (FARMOL), Faculty of Health Sciences, University of Brasilia, Brasilia-DF, Brazil., Carroll RS; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Jiang R; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Kaiser UB; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2023 Dec 01; Vol. 133 (23). Date of Electronic Publication: 2023 Dec 01.

Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia.

Autor: O'Connell DA; Thomas Jefferson University Philadelphia PA USA., Carroll RS; Thomas Jefferson University Philadelphia PA USA.; Nemours Children's Hospital, Delaware Wilmington DE USA., Duker AL; Nemours Children's Hospital, Delaware Wilmington DE USA., Schelhaas AJ; Nemours Children's Hospital, Delaware Wilmington DE USA., Postell MM; Nemours Children's Hospital, Delaware Wilmington DE USA., Fawcett PT; Nemours Children's Hospital, Delaware Wilmington DE USA., Bober MB; Thomas Jefferson University Philadelphia PA USA.; Nemours Children's Hospital, Delaware Wilmington DE USA.

Publikováno v: JBMR plus [JBMR Plus] 2023 Nov 09; Vol. 7 (12), pp. e10816. Date of Electronic Publication: 2023 Nov 09 (Print Publication: 2023).