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Long-Term Follow-Up of a Patient with a Novel Homozygous ASTN1 Variant: A Cas...

Kasap(B),Uludağ Alkaya(D),Güneş(N),Türk(S)... Neurol Int 2026-04-19

Severe neurodevelopmental disorders caused by homozygous ASTN1 variants have recently been reported. The aim of this stu...

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 ca...

Levine(JM),Calame(DG),Sangermano(R),Du(H),... Am J Hum Genet 2026-02-05

...ASTN1 and one individual with heterozygous variants in both ASTN1 and ASTN2. We expand the clinical phenotypic descripti...

Triage of women with a positive HPV DNA test: evaluating a DNA methylation pa...

Ren(Y),Qin(F),Shen(L),Li(L),Wu(Q),Yi(P) BMC Cancer 2025-07-24

...ASTN1, DLX1, ITGA4, RXFP3, SOX17, and ZNF671), in cervical cytology samples from 146 women for detecting cervical intrae...

Genetic variants associated with chronic postsurgical pain: evidence from the...

Song(J),Zhang(Y),Zeng(H),Dong(Y),Chen(W),Y... Br J Anaesth 2025-11-00

...ASTN1, RSU1, and C1QL3, involved in neuronal migration, extracellular signal-regulated kinase/mitogen-activated protein ...

Towards unraveling the human tooth transcriptome: the dentome.

Hu(Shijia),Parker(Joel),Wright(John Timoth... PLoS One 2016-04-05

...ASTN1). Furthermore, our analysis indicated that the Phospholipase C and ERK5 pathways, that are important for cell move...

Pappa2 is linked to salt-sensitive hypertension in Dahl S rats.

Cowley(Allen W),Yang(Chun),Kumar(Vikash),L... Physiol Genomics 2016-10-05

...Astn1 and Pappa2) and a microRNA (miR-488). Pappa2 mRNA in the renal cortex of the protected 26-P was 6- to 10-fold grea...

Characterization of biological pathways associated with a 1.37 Mbp genomic re...

Cowley(Allen W),Moreno(Carol),Jacob(Howard... Physiol Genomics 2015-01-13

...Astn1, Pappa2, and Tnr. A cross-platform normalization of transcriptome data sets obtained from our previously published...

Long noncoding RNA HOTAIR is relevant to cellular proliferation, invasiveness...

Ono(Hiroshi),Motoi(Noriko),Nagano(Hiroko),... Cancer Med 2015-02-12

...ASTN1, PCDHA1, and mucin production-related genes such as MUC5AC, and downregulation of genes involved in neuronal growt...

Expression and clinical significance of genes frequently mutated in small cel...

Iwakawa(Reika),Kohno(Takashi),Totoki(Yasus... Carcinogenesis 2015-08-24

...ASTN1, ASPM and FBN3. In particular, the TMEM132D, SPTA1 and VPS13B genes were commonly mutated in both early and late s...

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for ...

Lionel(Anath C),Tammimies(Kristiina),Vaags... Hum Mol Genet 2014-12-03

...ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrot...

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