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Chen G Han

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Recent Articles
1.
Mattijssen S, Kerkhofs K, Stephen J, Yang A, Han C, Tadafumi Y, et al.
bioRxiv . 2024 Feb; PMID: 38410490
RNA polymerase III (Pol III, POLR3) synthesizes tRNAs and other small non-coding RNAs. Human pathogenic variants cause a range of developmental disorders, recapitulated in part by mouse models, yet some...
2.
Keppler-Noreuil K, Burton-Akright J, Kleiner D, Sapp J, Lindhurst M, Han C, et al.
Ann Am Thorac Soc . 2022 Jul; 19(11):1871-1880. PMID: 35839129
Limited information is available regarding cystic lung disease in syndrome, a rare overgrowth disorder caused by a somatic activating variant in . To define the phenotype of cystic lung disease...
3.
Abudi-Sinreich S, Bodine S, Yokoyama T, Tolman N, Tyrlik M, Testa L, et al.
Respir Res . 2022 May; 23(1):112. PMID: 35509004
Background: HPS-1 is a genetic type of Hermansky-Pudlak syndrome (HPS) with highly penetrant pulmonary fibrosis (HPSPF), a restrictive lung disease that is similar to idiopathic pulmonary fibrosis (IPF). Hps1 (pale...
4.
Han C, OBrien K, Coon L, Majerus J, Huryn L, Haroutunian S, et al.
Am J Med Genet A . 2018 Oct; 176(12):2819-2823. PMID: 30369044
Heřmanský-Pudlák syndrome (HPS), a rare autosomal recessive disorder, manifests with oculocutaneous albinism and a bleeding diathesis. However, severity of disease can be variable and is typically related to the genetic...