Results 201 to 210 of about 404,647 (255)

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

The role of alternative splicing in gastric cancer. [PDF]

Biol Direct
Huang Q, Ke J, Shen X, Xu Y, Sun S, Huang C.   +5 more
europepmc   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

A missense variant in Exon 9 of the <i>ASNS</i> gene causes splicing abnormality in an Infant with asparagine synthetase deficiency. [PDF]

Front Genet
Zhang W, Chen F, Wang Z, Ding H, Zhang Y, Zeng L.   +5 more
europepmc   +1 more source

The Exon Theory of Genes

Cold Spring Harbor Symposia on Quantitative Biology, 1987
openaire   +2 more sources

Emerging mechanisms of kinase inhibitor escape and clinical implications of ponatinib in advanced gastrointestinal stromal tumor. [PDF]

J Gastrointest Oncol
Shenoy S.
europepmc   +1 more source

Alternative splicing regulates <i>FGGY-</i>derived neoantigen presentation and promotes immune evasion in metabolic-associated hepatocellular carcinoma. [PDF]

iScience
Zhao LN, Andersen JB.
europepmc   +1 more source

Homozygous SGCB splice-site variant causes isolated dilated cardiomyopathy through sarcoglycan complex destabilization in East Asians. [PDF]

J Clin Invest
Li F, Shinomiya H, Kuramoto Y, Kanaoka K, Sakahashi Y, Ishihara Y, Kioka H, Ide S, Yamaguchi-Kabata Y, Tadaka S, Motoike IN, Kinoshita K, Ohneda K, Sakurai H, Okumura T, Miyashita Y, Jojima K, Kato H, Matsuoka K, Tanabe K, Nishimura S, Takashima S, Asano Y, Sakata Y.   +23 more
europepmc   +1 more source

Newborn Screening for Spinal Muscular Atrophy in the Republic of Moldova: A Feasibility Study and First Steps. [PDF]

Int J Neonatal Screen
Coliban I, Usurelu N, Opalco I, Gladun S, Sacara V.   +4 more
europepmc   +1 more source

Case Report: Clinical case of a giant plexiform neurofibroma of the liver in a patient with deletion of exon 1 of the NF1 gene. [PDF]

Front Oncol
Idrissova Z, Orazgaliyeva M, Kovaleva K, Seilkhanova Z, Rakhimbekova F, Zhaksybek M, Myrzamuratova D.   +6 more
europepmc   +1 more source