Cold Spring Harbor Molecular Case Studies
Overview
Cold Spring Harbor Molecular Case Studies is a scientific journal, published since 2015 in English. The journal's country of origin is United States and its primary focus area is genetics.
Details
Details
Abbr.
Cold Spring Harb Mol Case Stud
Start
2015
End
Continuing
e-ISSN
2373-2873
Country
United States
Language
English
Specialty
Genetics
Metrics
Metrics
h-index / Ranks: 11346
25
SJR / Ranks: 5261
801
CiteScore / Ranks: 6699
4.00
Recent Articles
1.
Albokhari D, Alharbi O, Blesson A, Jain M
Cold Spring Harb Mol Case Stud
. 2024 Jan;
9(4).
PMID: 38199782
Dihydropyrimidinase (DHP) deficiency is an autosomal recessive metabolic disorder caused by biallelic pathogenic variants of Patients with DHP deficiency exhibit a broad spectrum of phenotypes, ranging from severe neurological and...
2.
Nkosi D, Allbee A, Rothberg P, Friedberg J, Evans A
Cold Spring Harb Mol Case Stud
. 2024 Jan;
9(4).
PMID: 38199781
The potential for more than one distinct hematolymphoid neoplasm to arise from a common mutated stem or precursor cell has been proposed based on findings in primary human malignancies. Particularly,...
3.
Allbee A, Gerson J, Yang G, Bagg A
Cold Spring Harb Mol Case Stud
. 2024 Jan;
9(4).
PMID: 38199780
We present a unique case of a single patient presenting with two mutationally distinct, PD-L1 diffuse large B-cell lymphomas (DLBCLs). One of these DLBCLs demonstrated exceptionally high mutational burden (eight...
4.
Pinto E, Ribeiro E, Wang J, Phillips A, Kriwacki R, Zambetti G
Cold Spring Harb Mol Case Stud
. 2023 Dec;
9(4).
PMID: 38050059
plays a critical role as a tumor suppressor by controlling cell cycle progression, DNA repair, and apoptosis. Post-translational modifications such as acetylation of specific lysine residues in the DNA binding...
5.
Chung W, Herrera F
Cold Spring Harb Mol Case Stud
. 2023 Dec;
9(4).
PMID: 38050025
Rare genetic conditions are challenging for the primary care provider to manage without proper guidelines. This clinical review is designed to assist the pediatrician, family physician, or internist in the...
6.
Hernandez K, Venkat A, Elbers D, Bihn J, Brophy M, Do N, et al.
Cold Spring Harb Mol Case Stud
. 2023 Dec;
9(4).
PMID: 38050021
Veterans are at an increased risk for prostate cancer, a disease with extraordinary clinical and molecular heterogeneity, compared with the general population. However, little is known about the underlying molecular...
7.
Chan S, Low C, Yau C, Lin T, Wang W, Xiu S, et al.
Cold Spring Harb Mol Case Stud
. 2023 Nov;
9(4).
PMID: 37945347
Metastatic porocarcinomas (PCs) are vanishingly rare, highly aggressive skin adnexal tumors with mortality rates exceeding 70%. Their rarity has precluded the understanding of their disease pathogenesis, let alone the conduct...
8.
Tibout P, Livingston J, Kanwar N, Yuki K, Shlien A, Ngan B, et al.
Cold Spring Harb Mol Case Stud
. 2023 Nov;
9(4).
PMID: 37932047
T-lymphoblastic lymphoma (T-LLy) is the most common lymphoblastic lymphoma in children and often presents with a mediastinal mass. Lymphomatous suprarenal masses are possible but rare. Here, we discuss the case...
9.
Reid K, Camacho-Vanegas O, Pandya D, Camacho S, Qiao R, Kalir T, et al.
Cold Spring Harb Mol Case Stud
. 2023 Oct;
9(4).
PMID: 37848227
Although the progressive histologic steps leading to endometrial cancer (EndoCA), the most common female reproductive tract malignancy, from endometrial hyperplasia are well-established, the molecular changes accompanying this malignant transformation in...
10.
Kleyner R, Ung N, Arif M, Marchi E, Amble K, Gavin M, et al.
Cold Spring Harb Mol Case Stud
. 2023 Oct;
9(4).
PMID: 37821226
Inositol 1,4,5-triphosphate receptor type 1 () is an endoplasmic reticulum-bound intracellular inositol triphosphate receptor involved in the regulation of intracellular calcium. Pathogenic variants in are associated with spinocerebellar ataxia (SCA)...