Immunogenetics of type 1 diabetes mellitus
MP Morran, A Vonberg, A Khadra… - Molecular aspects of …, 2015 - Elsevier
Type 1 diabetes mellitus (T1DM) is an autoimmune disease arising through a complex
interaction of both genetic and immunologic factors. Similar to the majority of autoimmune …
interaction of both genetic and immunologic factors. Similar to the majority of autoimmune …
[HTML][HTML] Genomic analyses reveal the influence of geographic origin, migration, and hybridization on modern dog breed development
There are nearly 400 modern domestic dog breeds with a unique histories and genetic
profiles. To track the genetic signatures of breed development, we have assembled the most …
profiles. To track the genetic signatures of breed development, we have assembled the most …
Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to …
B Dahlbäck, M Carlsson… - Proceedings of the …, 1993 - National Acad Sciences
Although patients with thromboembolic disease frequently have family histories of
thrombosis, well-defined defects such as inherited deficiencies of anticoagulant proteins are …
thrombosis, well-defined defects such as inherited deficiencies of anticoagulant proteins are …
Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter
DB Simon, C Nelson-Williams, M Johnson Bia… - Nature …, 1996 - nature.com
Maintenance of fluid and electrolyte homeostasis is critical for normal neuromuscular
function. Bartter's syndrome is an autosomal recessive disease characterized by diverse …
function. Bartter's syndrome is an autosomal recessive disease characterized by diverse …
A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension
RP Lifton, RG Dluhy, M Powers, GM Rich, S Cook… - Nature, 1992 - nature.com
Abstract GLUCOCORTICOID-REMEDIABLE Received 26 September; accepted 29 October
1991. aldosteronism (GRA), an autosomal dominant disorder, is characterized by …
1991. aldosteronism (GRA), an autosomal dominant disorder, is characterized by …
A revised estimate of twin concordance in systemic lupus erythematosus
D Deafen, A Escalante, L Weinrib… - … : Official Journal of …, 1992 - Wiley Online Library
Objective. Based on a small clinical series and previously published case reports,
concordance for systemic lupus erythematosus (SLE) among monozygous (MZ) twins has …
concordance for systemic lupus erythematosus (SLE) among monozygous (MZ) twins has …
Structure and expression of the human cystatin C gene
M Abrahamson, Í Ólafsson, Á Pálsdóttir… - Biochemical …, 1990 - portlandpress.com
The structural organization of the gene for the human cysteine-proteinase inhibitor cystatin C
was studied. Restriction-endonuclease digests of human genomic DNA hybridized with …
was studied. Restriction-endonuclease digests of human genomic DNA hybridized with …
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2CI cotransporter NKCC2
DB Simon, FE Karet, JM Hamdan, AD Pietro… - Nature …, 1996 - nature.com
Inherited hypokalaemic alkalosis with low blood pressure can be divided into two groups—
Gitelman's syndrome, featuring hypocalciuria, hypomagnesaemia and milder clinical …
Gitelman's syndrome, featuring hypocalciuria, hypomagnesaemia and milder clinical …
Liddle's syndrome: heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel
RA Shimkets, DG Warnock, CM Bositis… - Cell, 1994 - cell.com
Liddle's syndrome (pseudoaldosteronism) is an autosomal dominant form of human
hypertension characterized by a constellation of findings suggesting constitutive activation of …
hypertension characterized by a constellation of findings suggesting constitutive activation of …