Results 141 to 150 of about 546,299 (291)

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Dynamic changes in excitability and viability of sporadic and <i>SOD1</i>-related amyotrophic lateral sclerosis iPSC-derived motor neurons. [PDF]

Front Cell Dev Biol
Qi M, Hu N, Ding J, Niu J, Long B, Liu M.   +5 more
europepmc   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

APOE, Aβ42, and tau differentially impact cognitive decline in Sporadic, GBA1 and LRRK2 Parkinson's disease. [PDF]

NPJ Parkinsons Dis
Botta R, Locascio JJ, Ye R, Goodheart AE, Gomperts SN.   +4 more
europepmc   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Differences in the aggressiveness of familial versus sporadic non-medullary thyroid cancer: An unresolved controversy. [PDF]

Arch Endocrinol Metab
Miasaki FY, Cavalcanti TCS, Graf H, Kimura ET, Kopp PA, Carvalho GA.   +5 more
europepmc   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Cost-effectiveness analysis of hepatitis E screening and vaccination: targeting vulnerable populations in outbreak and sporadic settings in China. [PDF]

Emerg Microbes Infect
Liu H, Chen G, Jie Y, Jiang Y, Huang Y, Wang X, Hao C, Gu J, Zhang L, Li J.   +9 more
europepmc   +1 more source

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source

Elevated TNF-α level is correlated with NF-κB/p65 activation in patients with sporadic colorectal cancer. [PDF]

Mol Clin Oncol
Santana-Bejarano UF, Fernandez-Sanchez D, Bobadilla-Morales L, Brukman-Jimenez A, Valenzuela-Pérez JA, Corona-Rivera JR, Corona-Rivera A.   +6 more
europepmc   +1 more source