Documents (2,594) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PMC	4829102	EXD2 promotes homologous recombination by facilitating DNA-end resection Abstract Repair of DNA double strand breaks (DSBs) by homologous recombination (HR) is critical for survival and genome stabi	39.4 KB	2020-09-16	3	205	-
PMC	4327795	Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report Abstract Background Amelogenesis imperfecta represe	10.5 KB	2020-09-16	3	254	-
PMC	4947154	Structural basis of transcobalamin recognition by human CD320 receptor Abstract Cellular uptake of vitamin B12 (cobalamin) requires capture of transcobalamin (TC) from the plasma by CD320, a ubiquit	31.7 KB	2020-09-16	3	282	-
PMC	4574214	De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature Abstract Background Human height is a complex trait with a strong genetic basis. Recently, a significant as	20.2 KB	2020-09-16	3	391	-
PMC	5069600	Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2 Mutations in MME Cause AR‐CMT2 Higuchi et al Abstract Objective The objective of this study was to identify new cause	39.9 KB	2025-10-02	4	374	-
PMC	4419340	Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis Inherited IL-17RC deficiency and CMC disease Autosomal-recessive IL-17RA, IL-17RC, and ACT1 deficiencies and autosomal	39 KB	2020-09-16	6	220	-
PMC	4103454	FAN1 Activity on Asymmetric Repair Intermediates Is Mediated by an Atypical Monomeric Virus-type Replication-Repair Nuclease Domain Abstract Summary FAN1 is a structure-selective DNA repair nuclease	27.2 KB	2020-09-16	3	261	-
PMC	4528928	Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome Human MLH1 N-terminus The crystal structure of the human MLH1 N-terminus is reported at 2.30 Å resolution. T	14.7 KB	2020-09-16	1	164	-
PMC	4608092	Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo Abstract Background P.R4810K of RNF213 (m	52.6 KB	2025-10-02	6	421	-
PMC	4925210	The Polycystin complex mediates WNT/Ca2+ signaling Abstract WNT ligands induce Ca2+ signaling on target cells. PKD1 (Polycystin 1) is considered an orphan, atypical G protein coupled receptor comple	46 KB	2020-09-16	3	338	-