A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

1997 ◽  
Vol 17 (2) ◽  
pp. 149-153 ◽  
Author(s):  
Friedhelm Hildebrandt ◽  
Edgar Otto ◽  
Cornelia Rensing ◽  
Hans Gerd Nothwang ◽  
Martin Vollmer ◽  
...  
Keyword(s):  
Sh3 Domain ◽  
Gene Encoding ◽  
Novel Gene ◽  
Domain Protein

Mutations in a Novel Gene, Encoding a Single Transmembrane Domain Protein Are Associated with Familial Glucocorticoid Deficiency Type 2

2004 ◽  
Vol 30 (4) ◽  
pp. 889-890 ◽  
Author(s):  
Louise A. Metherell ◽  
Sadani Cooray ◽  
Angela Huebner ◽  
Franz Ruschendorf ◽  
Danielle Naville ◽  
...  
Keyword(s):  
Transmembrane Domain ◽  
Gene Encoding ◽  
Novel Gene ◽  
Domain Protein ◽  
Glucocorticoid Deficiency ◽  
Deficiency Type

BARMR1/FAM92A1, a novel gene encoding BAR domain protein with multi-functions

Gene ◽  
2021 ◽  
Vol 765 ◽  
pp. 145074
Author(s):  
Xu Zhi Ruan ◽  
Xin Rong Guo ◽  
Xuan Bin Wang ◽  
Fu Yun Ji
Keyword(s):  
Gene Encoding ◽  
Bar Domain ◽  
Novel Gene ◽  
Domain Protein

A Novel Gene Encoding a TIG Multiple Domain Protein Is a Positional Candidate for Autosomal Recessive Polycystic Kidney Disease

Genomics ◽  
2002 ◽  
Vol 80 (1) ◽  
pp. 96-104 ◽  
Author(s):  
Huaqi Xiong ◽  
Yongxiong Chen ◽  
Yajun Yi ◽  
Karen Tsuchiya ◽  
Gilbert Moeckel ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Polycystic Kidney ◽  
Gene Encoding ◽  
Positional Candidate ◽  
Novel Gene ◽  
Domain Protein ◽  
Multiple Domain

Characterisation of Type 2N von Willebrand Disease Using Phenotypic and Molecular Techniques

1996 ◽  
Vol 75 (06) ◽  
pp. 959-964 ◽  
Author(s):  
I M Nesbitt ◽  
A C Goodeve ◽  
A M Guilliatt ◽  
M Makris ◽  
F E Preston ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Von Willebrand Disease ◽  
Molecular Techniques ◽  
Haemophilia A ◽  
Binding Region ◽  
Gene Encoding ◽  
Covalently Linked ◽  
Von Willebrand ◽  
Willebrand Factor

Summaryvon Willebrand factor (vWF) is a multimeric glycoprotein found in plasma non covalently linked to factor VIII (FVIII). Type 2N von Willebrand disease (vWD) is caused by a mutation in the vWF gene that results in vWF with a normal multimeric pattern, but with reduced binding to FVIII.We have utilised methods for the phenotypic and genotypic detection of type 2N vWD. The binding of FVIII to vWF in 69 patients, 36 with type 1 vWD, 32 with mild haemophilia A and one possible haemophilia A carrier with low FVIII levels was studied. Of these, six were found to have reduced binding (five type 1 vWD, one possible haemophilia A carrier), DNA was extracted from these patients and exons 18-23 of the vWF gene encoding the FVIII binding region of vWF were analysed. After direct sequencing and chemical cleavage mismatch detection, a Thr28Met mutation was detected in two unrelated individuals, one of whom appears to be a compound heterozygote for the mutation and a null allele. No mutations were found in the region of the vWF gene encoding the FVIII binding region of vWF in the other four patients

Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis

10.1038/76088 ◽  
2000 ◽  
Vol 25 (2) ◽  
pp. 213-216 ◽  
Author(s):  
Heiko Witt ◽  
Werner Luck ◽  
Hans Christian Hennies ◽  
Martin Claßen ◽  
Andreas Kage ◽  
...  
Keyword(s):  
Chronic Pancreatitis ◽  
Protease Inhibitor ◽  
Serine Protease ◽  
Serine Protease Inhibitor ◽  
Gene Encoding

Molecular cloning and characterization of SoNCED, a novel gene encoding 9-cis-epoxycarotenoid dioxygenase from sugarcane (Saccharum officinarum L.)

2013 ◽  
Vol 35 (1) ◽  
pp. 101-109 ◽  
Author(s):  
Chang-Ning Li ◽  
Manoj-Kumar Srivastava ◽  
Qian Nong ◽  
Li-Tao Yang ◽  
Yang-Rui Li
Keyword(s):  
Molecular Cloning ◽  
Saccharum Officinarum ◽  
Gene Encoding ◽  
Novel Gene
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