polydactyly/phosphatase

Nuoroda įrašoma į mainų sritį

StraipsniaiKlinikiniai tyrimaiPatentai

Pasirinkite rūšiavimo tipą

9 rezultatus

Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Inositol phosphatases are important regulators of cell signaling and membrane trafficking. Mutations in inositol polyphosphate 5-phosphatase, INPP5E, have been identified in Joubert syndrome, a rare congenital disorder characterized by midbrain malformation, retinitis pigmentosa, renal cysts, and

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Phosphotidylinositol (PtdIns) signaling is tightly regulated both spatially and temporally by subcellularly localized PtdIns kinases and phosphatases that dynamically alter downstream signaling events. Joubert syndrome is characterized by a specific midbrain-hindbrain malformation ('molar tooth

Inherited cerebrorenal syndromes.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Abnormalities in the central nervous system and renal function are seen together in a variety of congenital syndromes. This Review examines the clinical presentation and the genetic basis of several such syndromes. The X-linked oculocerebrorenal syndrome of Lowe is characterized by developmental

Cowden Syndrome: Case Report, Update and Proposed Diagnostic and Surveillance Routines.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Cowden syndrome (CS) is an infrequent autosomal dominant multisystem genodermatosis, generally involving the skin, oral mucosa, thyroid, breast and gastrointestinal tract. It is characterized by a late onset in the 2(nd) or 3(rd) decade of life, an extraordinary potential for malignant

Defective ciliogenesis in INPP5E-related Joubert syndrome.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance of the brainstem and cerebellum on axial MRI. Core clinical manifestations include hypotonia, tachypnea/apnea, ataxia, ocular motor apraxia,

A soluble form of fibroblast growth factor receptor 2 (FGFR2) with S252W mutation acts as an efficient inhibitor for the enhanced osteoblastic differentiation caused by FGFR2 activation in Apert syndrome.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation. Here we investigated the role of the S252W mutation of FGFR2 on

INPP5E regulates phosphoinositide-dependent cilia transition zone function.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Human ciliopathies, including Joubert syndrome (JBTS), arise from cilia dysfunction. The inositol polyphosphate 5-phosphatase INPP5E localizes to cilia and is mutated in JBTS. Murine Inpp5e ablation is embryonically lethal and recapitulates JBTS, including neural tube defects and polydactyly;

Gli proteins encode context-dependent positive and negative functions: implications for development and disease.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

Several lines of evidence implicate zinc finger proteins of the Gli family in the final steps of Hedgehog signaling in normal development and disease. C-terminally truncated mutant GLI3 proteins are also associated with human syndromes, but it is not clear whether these C-terminally truncated Gli

Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.

Straipsnius versti gali tik registruoti vartotojai

Prisijungti Registracija

The hedgehog (Hh) pathway is highly conserved and required for embryonic patterning and determination. Mutations in the Hh pathway are observed in sporadic tumors as well as under syndromic conditions. Common to these syndromes are the findings of polydactyly/syndactyly and brain overgrowth. The

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