Results 231 to 240 of about 94,951 (305)

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Increased Risk of Transition to Institutional Care Among Community-Dwelling Older Adults With Cognitive Frailty: A Competing Risks Survival Analysis. [PDF]

Int J Geriatr Psychiatry
Bian J, Chen Z, Fong DYT, Choi EPH, Chau PH.   +4 more
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

The Broken Cradle: Bone Marrow Stem Cell Niche Remodelling in Diabetes. [PDF]

Stem Cell Rev Rep
Kum JJY, Howlett CJ, Khan ZA.
europepmc   +1 more source

Designing protein-based artificial kinetochores as decoys to prevent meiotic errors in oocytes. [PDF]

Nat Cell Biol
Zhou Y, Asai K, Kyogoku H, Kitajima TS.
europepmc   +1 more source

Byron and Premature Aging

, 2017
openaire  

Real-world analysis and future trends of stroke-related mortality and burden in Pudong: a comprehensive study from 2005 to 2035. [PDF]

BMJ Open
Luo Z, Kuang C, Zhang Y, Chen Y, Jia W, Wu X, Qian M, Lv H, Li X.   +8 more
europepmc   +1 more source

LAP2 Isoform Profile in Heart Ageing and in Cardiac Cell Proliferation and Differentiation: Input From CRISPR-Cas9-mediated LAP2a Knockdown in H9C2. [PDF]

Int J Med Sci
Vadrot N, Moulin M, Ferreiro A, Richard P, Buendia B.   +4 more
europepmc   +1 more source

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, EarlyView.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source