Konark Mukherjee
Overview
Explore the profile of Konark Mukherjee including associated specialties, affiliations and a list of published articles.
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Articles
38
Citations
1066
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0
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Recent Articles
1.
Patel P, LaConte L, Liang C, Cecere T, Rajan D, Srivastava S, et al.
J Med Genet
. 2024 Apr;
61(8):759-768.
PMID: 38670634
Background: Pontocerebellar hypoplasia (PCH) may present with supratentorial phenotypes and is often accompanied by microcephaly. Damaging mutations in the X-linked gene produce self-limiting microcephaly with PCH in females but are...
2.
Zglejc-Waszak K, Mukherjee K, Korytko A, Lewczuk B, Pomianowski A, Wojtkiewicz J, et al.
J Mol Med (Berl)
. 2023 Jul;
101(8):1015-1028.
PMID: 37462767
Multiple molecular pathways including the receptor for advanced glycation end-products-diaphanous related formin 1 (RAGE-Diaph1) signaling are known to play a role in diabetic peripheral neuropathy (DPN). Evidence suggests that neuropathological...
3.
Juranek J, Mukherjee K, Kordas B, Zalecki M, Korytko A, Zglejc-Waszak K, et al.
Neurosci Bull
. 2022 Jun;
38(10):1248-1262.
PMID: 35729453
This review reflects upon our own as well as other investigators' studies on the role of receptor for advanced glycation end-products (RAGE), bringing up the latest information on RAGE in...
4.
Mukherjee K, LaConte L, Srivastava S
Cells
. 2022 Apr;
11(7).
PMID: 35406695
Most human disease manifests as a result of tissue pathology, due to an underlying disease process (pathogenesis), rather than the acute loss of specific molecular function(s). Successful therapeutic strategies thus...
5.
Patel P, Hegert J, Cristian I, Kerr A, LaConte L, Fox M, et al.
J Med Genet
. 2022 Feb;
59(11):1044-1057.
PMID: 35149592
Background: Heterozygous loss of X-linked genes like and MeCP2 (Rett syndrome) causes developmental delay in girls, while in boys, loss of the only allele of these genes leads to epileptic...
6.
Zglejc-Waszak K, Mukherjee K, Juranek J
Eur J Neurosci
. 2021 Aug;
54(6):5982-5999.
PMID: 34449932
Neuropathy, or dysfunction of peripheral nerve, is one of the most common neurological manifestation in patients with diabetes mellitus (DM). DM is typically associated with a hyperglycaemic milieu, which promotes...
7.
Juranek J, Mukherjee K, Jahn R, Li J
Biochem Biophys Res Commun
. 2021 May;
559:92-98.
PMID: 33933994
Synaptic transmission is mediated by neurotransmitters that are stored in synaptic vesicles (SV) and released at the synaptic active zone (AZ). While in recent years major progress has been made...
8.
Mukherjee K, Patel P, Rajan D, LaConte L, Srivastava S
Mol Genet Genomic Med
. 2020 Jul;
8(10):e1426.
PMID: 32696595
Background: CASK is an X-linked gene in mammals and its deletion in males is incompatible with life. CASK heterozygous mutations in female patients associate with intellectual disability, microcephaly, pontocerebellar hypoplasia,...
9.
Studtmann C, LaConte L, Mukherjee K
Am J Med Genet A
. 2019 Sep;
179(12):2514-2516.
PMID: 31532018
No abstract available.
10.
Kerr A, Patel P, LaConte L, Liang C, Chen C, Shah V, et al.
Invest Ophthalmol Vis Sci
. 2019 Aug;
60(10):3584-3594.
PMID: 31425583
Purpose: Heterozygous mutations in the essential X-linked gene CASK associate with optic nerve hypoplasia (ONH) and other retinal disorders in girls. CASK+/- heterozygous knockout mice with mosaic CASK expression exhibit...