Shwachman-Diamond Syndrome Latest Advances

Beyond Hematologic Malignancies: Colorectal Cancer as a Solid Tumor Manifestation of Inherited Bone Marrow Failure Syndromes.

Journal: International journal of molecular sciences

Published: August 27, 2025

Growth Patterns in Shwachman-Diamond Syndrome: Findings from the North American Shwachman-Diamond Syndrome Registry.

Journal: The Journal of pediatrics

Published: May 16, 2025

A novel MAP7D1 mutation causes mitotic defects and RPS14 accumulation in Shwachman-Diamond syndrome patient cells.

Journal: Disease models & mechanisms

Published: April 09, 2025

Shwachman-Diamond Syndrome and Diabetes: An Update from the Italian Registry and Review of the Literature.

Journal: Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association

Published: January 15, 2025

Clinical and genetic spectrum of SBDS and DNAJC21 gene variants in bone marrow failure cases: Atypical and cryptic presentations.

Journal: Blood cells, molecules & diseases

Published: December 15, 2024

Mitotic abnormalities and spindle assembly checkpoint inactivation in a cell model of Shwachman-Diamond syndrome with mutations in the Shwachman-Bodian-Diamond syndrome gene, 258+2T > C.

Journal: Drug discoveries & therapeutics

Published: October 27, 2024

Prenatal Diagnosis of Shwachman-Diamond Syndrome: Fetal Compound Heterozygous Variants in the SBDS Gene Associated With Mildly Straight Ribs.

Journal: Prenatal diagnosis

Published: October 25, 2024

Reduced EIF6 dosage attenuates TP53 activation in models of Shwachman-Diamond syndrome.

Journal: The Journal of clinical investigation

Published: October 17, 2024

Constitutive systemic inflammation in Shwachman-Diamond Syndrome.

Journal: Molecular medicine (Cambridge, Mass.)

Published: October 09, 2024

Outcomes of allogeneic hematopoietic stem cell transplantation in Shwachman-Diamond syndrome: a systematic review and meta-analysis.

Journal: Cytotherapy

Published: October 04, 2024

Shwachman-Diamond syndrome: A case report.

Journal: Medicine

Published: September 10, 2024

Allogeneic hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: a report of three cases and literature review

Journal: Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi

Published: September 04, 2024