Human Genome and Diseases:¶ WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases
D Li, R Roberts - Cellular and Molecular Life Sciences CMLS, 2001 - Springer
Defined by the presence of four or more repeating units containing a conserved core of
approximately 40 amino acids that usually ending with tryptophan-aspartic acid (WD), WD …
approximately 40 amino acids that usually ending with tryptophan-aspartic acid (WD), WD …
cDNA and genomic cloning of lacritin, a novel secretion enhancing factor from the human lacrimal gland
Multiple extracellular factors are hypothesized to promote the differentiation of unstimulated
and/or stimulated secretory pathways in exocrine secretory cells, but the identity of …
and/or stimulated secretory pathways in exocrine secretory cells, but the identity of …
Spectrum of Mutations of the AAAS Gene in Allgrove Syndrome: Lack of Mutations in Six Kindreds with Isolated Resistance to Corticotropin
F Sandrini, C Farmakidis, LS Kirschner… - The Journal of …, 2001 - academic.oup.com
Familial glucocorticoid deficiency due to corticotropin (ACTH) resistance consists of two
distinct genetic syndromes that are both inherited as autosomal recessive traits: isolated …
distinct genetic syndromes that are both inherited as autosomal recessive traits: isolated …
Achalasia, alacrima, adrenal insufficiency, and autonomic dysfunction: double A, triple A, or quaternary A syndrome?
DISCUSSION Achalasia, absent or sparse tears, and adrenal insufficiency are the major
features of triple A syndrome (1). Other clinical features include proportionate short stature …
features of triple A syndrome (1). Other clinical features include proportionate short stature …
Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome
K Schmittmann-Ohters, A Huebner, A Richter-Unruh… - Hormone …, 2001 - karger.com
Background: The triple A syndrome is characterized by the main features adrenal
insufficiency, achalasia and alacrima. Other organ systems can be involved in a variable …
insufficiency, achalasia and alacrima. Other organ systems can be involved in a variable …
Recent developments on DHEA supplementation in the substitutive therapy of primary adrenal insufficiency
S Laureti, F Santeusanio, A Falorni - Expert Opinion on …, 2001 - Taylor & Francis
Primary adrenal insufficiency is the consequence of the bilateral destruction or impaired
function of the adrenal cortex. The reduction of the adrenocortical cell mass is responsible …
function of the adrenal cortex. The reduction of the adrenocortical cell mass is responsible …