Results 131 to 140 of about 2,676,573 (175)

Deep neural networks and genome-wide associations reveal the polygenic architecture of local brain aging. [PDF]

Geroscience
Kim NJ, Mishra A, Chowdhury NF, Anderson SD, Vega OM, Chaudhari NN, Buetow KH, Thompson PM, Irimia A.   +8 more
europepmc   +1 more source

Etiology and clinical characteristics of infantile cholestasis: a single-center retrospective study of 326 cases. [PDF]

Front Pediatr
Tang YP, Wei XX, Xue N, Yang HY, Li H.
europepmc   +1 more source

Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults. [PDF]

Front Pediatr
Hoskins BJ, Pramparo T, Gough E, Ponte A, Dutta R, Karnsakul W.   +5 more
europepmc   +1 more source

Whole-exome sequencing illuminates unexplained pediatric cholestatic liver disease. [PDF]

World J Hepatol
Yodoshi T.
europepmc   +1 more source

Single-cell and spatial transcriptomics reveal lactate-active epithelial-immune cell crosstalk that reprograms the immune microenvironment in colorectal cancer. [PDF]

Transl Oncol
Lan H, Li Y, Li H, Guo J, Wang C, Tang Q.   +5 more
europepmc   +1 more source

Aspartate-Glutamate Carrier 1 (<i>SLC25A12</i>) Deficiency: Malate-Aspartate Shuttle Failure, Neurodevelopmental Epileptic Encephalopathy, and Ketone-Based Metabolic Therapy. [PDF]

Int J Mol Sci
Murano M, Iaconisi GN, Monné M, Ahmed A, Fiermonte G, Capobianco L, Dolce V.   +6 more
europepmc   +1 more source

Aspartate availability drives differential engagement of the malate-aspartate shuttle. [PDF]

Mol Cell
Brunner JS, Bridgeman AE, Jackson BT, Chakraborty S, Fagoaga-Eugui M, Paras KI, Xie A, Arnold PK, Losner J, Finley LWS.   +9 more
europepmc   +1 more source

Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases. [PDF]

HGG Adv
Ng HY, Ma W, Lam WJ, Lau CS, Luk HM, Au LWC, Cheng SSW, Chong JSC, Ho S, Ma BM, Pang SYY, Hong Kong Genome Project, Chu ATW, Chung BHY.   +13 more
europepmc   +1 more source

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency

Journal of Human Genetics, 2005
Deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with intrahepatic cholestasis (NICCD).
Takeyori Saheki, Kwang-Jen Hsiao, Yanling Yang   +2 more
exaly   +6 more sources