MOLECULAR PATHOLOGY OF 21-HYDROXYLASE DEFICIENCY [PDF]
Pathological mutations in steroid 21-hydroxylase deficiency appear to derive exclusively from sequence exchange between the 21-hydroxylase gene (CYP21B) and a closely related pseudogene (CYP21A), located 30 kb telomeric to CYP21B and functionally inactive because of several mutations distributed along its length.
May Tassabehji+7 more
openaire +2 more sources
Relationships of Basal Level of Serum 17-Hydroxyprogesterone with that of Serum Androstenedione and Their Stimulated Responses to a Low Dose of ACTH in Young Adult Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency [PDF]
A single measurement of serum 17α-hydroxyprogesterone (17OHP) level can be unreliable because of its marked diurnal variation. We investigated the relationship of serum level of 17OHP with that of androstenedione (AD), which shows a smaller diurnal ...
Barnes+24 more
core +2 more sources
Location of the gene for 21-hydroxylase deficiency [PDF]
We have studied 34 families in whom the propositus had CAH and confirm the original observation (1) that the gene responsible is closely related to the HLA loci. In one family the paternal HLA antigens were A1 B8, B37, DRW5 and the maternal antigens A3, A9, CW3, CW5 B12, B40, DRW1, DRW5.
M A Reynolds+3 more
openaire +2 more sources
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]
INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
Cortès Saladelafont, Elisenda+16 more
core +1 more source
The manuscript examines preclinical murine and human models to study polycystic ovary syndrome (PCOS), delving into the cellular and molecular mechanisms underlying altered ovarian follicular dynamics. It explores the cellular interactions involved in normal and PCOS ovaries and outlines the current and novel strategies in the search for preclinical ...
Arturo Bevilacqua+5 more
wiley +1 more source
Congenital adrenal hyperplasia: Diagnostic advances [PDF]
Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex.
Biason-Lauber, Anna, Torresani, T.
core +1 more source
An XX male with 21-hydroxylase deficiency [PDF]
The patient is the second child of healthy unrelated parents,his older brother is normal. At birth the genitalia were ambiguous; the phallus was adequate in size but there was chordee and perineal hypospadias. The labio-scrotal folds were fused. Gonads were palpable in both groins. The karyotype (blood and skin) was normal female XX.
D B Grant, N D Barnes
openaire +1 more source
Transducer Materials Mediated Deep Brain Stimulation in Neurological Disorders
This review discusses advanced transducer materials for improving deep brain stimulation (DBS) in neurological disorders. These materials respond to light, ultrasound, or magnetic fields, enabling precise, less invasive neuromodulation. Their stimulus‐responsive properties enhance neural control and adaptive therapy, paving the way for next‐generation ...
Di Zhao+5 more
wiley +1 more source
Non-skeletal activities of vitamin d: From physiology to brain pathology [PDF]
Vitamin D is a secosteroid hormone regulating the expression of almost 900 genes, and it is involved in the regulation of calcium and phosphate metabolism, immune response, and brain development.
Bruna Lo Sasso+6 more
core +1 more source
Research Models for Studying Vascular Calcification [PDF]
Calcification of the vessel wall contributes to high cardiovascular morbidity and mortality. Vascular calcification (VC) is a systemic disease with multifaceted contributing and inhibiting factors in an actively regulated process.
Babic, Milen+4 more
core +1 more source