congenital hypothyroidism/prolinas

Nuoroda įrašoma į mainų sritį

StraipsniaiKlinikiniai tyrimaiPatentai

Pasirinkite rūšiavimo tipą

4 rezultatus

A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

BACKGROUND Although thyroid dysgenesis is the most common cause of congenital hypothyroidism (CH), its molecular basis remains largely elusive. Indeed, in only a minority of cases with thyroid dysgenesis (2%-3%) was it possible to identify an underlying genetic defect. The objective of this study

A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Congenital hypothyroidism associated with thyroid hypoplasia can be caused by several genetic defects, including mutations in the TSHbeta-subunit, the TSH receptor, the G(s)alpha-subunit, and the transcription factor PAX8. Four girls with sporadic congenital hypothyroidism and hypoplastic thyroid

A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

BACKGROUND Isolated central congenital hypothyroidism (CCH) is rare and evades diagnosis on TSH-based congenital hypothyroidism (CH) screening programs in the United Kingdom. Accordingly, genetic ascertainment facilitates diagnosis and treatment of familial cases. Recognized causes include TSH β

Identification of a structural requirement for thyroid Na+/I- symporter (NIS) function from analysis of a mutation that causes human congenital hypothyroidism.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Patients with congenital lack of I transport do not accumulate I in their thyroids, often resulting in severe hypothyroidism. A single amino acid substitution in the thyroid Na+/I- symporter (NIS), proline replacing threonine at position 354 (T354P), was recently identified as the cause of this

Prisijunkite prie mūsų
„Facebook“ puslapio

Herbal & Natural Medicine

Išsamiausia vaistinių žolelių duomenų bazė, paremta mokslu

Dirba 55 kalbomis
Žolelių gydymas, paremtas mokslu
Vaistažolių atpažinimas pagal vaizdą
Interaktyvus GPS žemėlapis - pažymėkite vaistažoles vietoje (netrukus)
Skaitykite mokslines publikacijas, susijusias su jūsų paieška
Ieškokite vaistinių žolelių pagal jų poveikį
Susitvarkykite savo interesus ir sekite naujienas, klinikinius tyrimus ir patentus

Įveskite simptomą ar ligą ir perskaitykite apie žoleles, kurios gali padėti, įveskite žolę ir pamatykite ligas bei simptomus, nuo kurių ji naudojama.
* Visa informacija pagrįsta paskelbtais moksliniais tyrimais