Kristin W Baranano
Overview
Explore the profile of Kristin W Baranano including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
21
Citations
314
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Dionysiou M, Makri S, Ahlawat S, Guryildirim M, Baranano K, Groves M, et al.
Front Neurol
. 2024 Oct;
15:1466946.
PMID: 39385823
The RASopathies, collectively, are a spectrum of genetic syndromes caused by mutations in genes involved in the RAS/ mitogen-activated protein kinase (MAPK) pathway, including but not limited to , ,...
2.
Karayol R, Borroto M, Haghshenas S, Namasivayam A, Reilly J, Levy M, et al.
Am J Hum Genet
. 2024 May;
111(7):1330-1351.
PMID: 38815585
Epigenetic dysregulation has emerged as an important etiological mechanism of neurodevelopmental disorders (NDDs). Pathogenic variation in epigenetic regulators can impair deposition of histone post-translational modifications leading to aberrant spatiotemporal gene...
3.
Kramer A, Bennett D, Baranano K, Bannister R
eNeurologicalSci
. 2023 Mar;
31:100456.
PMID: 36938367
P/Q-type Ca flux into nerve terminals Ca2.1 channels is essential for neurotransmitter release at neuromuscular junctions and nearly all central synapses. Mutations in , the gene encoding Ca2.1, cause a...
4.
Deshwar A, Cytrynbaum C, Murthy H, Zon J, Chitayat D, Volpatti J, et al.
Brain
. 2022 Dec;
146(6):2285-2297.
PMID: 36477332
The blood-brain barrier ensures CNS homeostasis and protection from injury. Claudin-5 (CLDN5), an important component of tight junctions, is critical for the integrity of the blood-brain barrier. We have identified...
5.
Baranano K, Kimball A, Fong S, Egense A, Hudon C, Kline A
J Child Neurol
. 2022 Mar;
37(5):390-396.
PMID: 35238682
Cornelia de Lange syndrome is a rare developmental malformation syndrome characterized by small stature, limb anomalies, distinctive facial features, developmental delays, and behavioral issues. The diagnosis of Cornelia de Lange...
6.
Yabumoto M, Kianmahd J, Singh M, Palafox M, Wei A, Elliott K, et al.
Mol Genet Genomic Med
. 2021 Sep;
9(10):e1809.
PMID: 34519438
The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say-Barber-Biesecker-Young-Simpson Syndrome and Genitopatellar Syndrome. Here we present 20...
7.
Galosi S, Edani B, Martinelli S, Hansikova H, A Eklund E, Caputi C, et al.
Brain
. 2021 Aug;
145(1):208-223.
PMID: 34382076
Subcellular membrane systems are highly enriched in dolichol, whose role in organelle homeostasis and endosomal-lysosomal pathway remains largely unclear besides being involved in protein glycosylation. DHDDS encodes for the catalytic...
8.
Beck D, Basar M, Asmar A, Thompson J, Oda H, Uehara D, et al.
Sci Adv
. 2021 Feb;
7(4).
PMID: 33523931
Reversible modification of proteins with linkage-specific ubiquitin chains is critical for intracellular signaling. Information on physiological roles and underlying mechanisms of particular ubiquitin linkages during human development are limited. Here,...
9.
Mu W, Heller T, Baranano K
BMJ Case Rep
. 2021 Jan;
14(1).
PMID: 33462000
Pontocerebellar hypoplasia type 1B (PCH1B) describes an autosomal recessive neurological condition that involves hypoplasia or atrophy of the cerebellum and pons, resulting in neurocognitive impairments. Although there is phenotypic variability,...
10.
Guillen Sacoto M, Tchasovnikarova I, Torti E, Forster C, Andrew E, Anselm I, et al.
Am J Hum Genet
. 2020 Jul;
107(2):352-363.
PMID: 32693025
MORC2 encodes an ATPase that plays a role in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous variants in MORC2 have been reported in individuals with autosomal-dominant Charcot-Marie-Tooth disease type...