LitCoin_Mondo

Documents (400) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	18779591	Identification of a gain-of-function mutation of the prolactin receptor in women with benign breast tumors. There is currently no known genetic disease linked to prolactin (Prl) or its receptor (PrlR)	1.71 KB	2015-11-24	27	1	2021-12-16
PubMed	18046082	Identification of apolipoprotein E Guangzhou (arginine 150 proline), a new variant associated with lipoprotein glomerulopathy. BACKGROUND/AIMS: Lipoprotein glomerulopathy (LPG) is a rare disease chara	1.6 KB	2015-11-23	50	4	2021-12-16
PubMed	17951029	Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. BACKGROUND: Focal dermal hypoplasia (FDH) (OMIM 305600) is an X-linked dominant disorder of ecto-mesodermal	1.48 KB	2015-11-23	34	4	2021-12-16
PubMed	17634480	Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer. PURPOSE: The prognosis of breast cancer varies considerably among individuals, and inherit	1.71 KB	2025-10-02	30	13	2021-12-16
PubMed	17628794	Manganese superoxide dismutase (Mn-SOD) gene polymorphisms in urolithiasis. Polymorphism in manganese superoxide dismutase gene (Mn-SOD) is a new approach to identify its probable association with uro	1.5 KB	2015-11-23	27	5	2021-12-16
PubMed	17595233	Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease. BACKGROUND AND AIMS: A number of antibodies against microbial	2.71 KB	2015-11-23	30	12	2021-12-16
PubMed	17221831	The G51S purine nucleoside phosphorylase polymorphism is associated with cognitive decline in Alzheimer's disease patients. Alzheimer's disease (AD) is a polygenic and multifactorial complex disease,	1.59 KB	2015-11-23	28	2	2021-12-16
PubMed	17177139	A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated ser	1.97 KB	2015-12-25	28	8	2021-12-16
PubMed	16840830	Two novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1. Multiple endocrine neoplasia type 1 (MEN1) is characterized by parathyroid, enteropancreatic endocrine and pituita	1.34 KB	2015-11-23	26	6	2021-12-16
PubMed	16838170	Single nucleotide polymorphisms of the HNF4alpha gene are associated with the conversion to type 2 diabetes mellitus: the STOP-NIDDM trial. Hepatocyte nuclear factor 4alpha (HNF4alpha) is a transcript	1.75 KB	2025-10-02	46	12	2021-12-16