نتایج جستجو برای: poikiloderma

تعداد نتایج: 174  

Journal: :Journal of cell science 2016
Emanuel Rognoni Raphael Ruppert Reinhard Fässler

The kindlin (or fermitin) family of proteins comprises three members (kindlin-1,-2 and -3) of evolutionarily conserved focal adhesion (FA) proteins, whose best-known task is to increase integrin affinity for a ligand (also referred as integrin activation) through binding of β-integrin tails. The consequence of kindlin-mediated integrin activation and integrin-ligand binding is cell adhesion, sp...

2014
Elisabeth Zapatero-Solana Jose Luis García-Giménez Sara Guerrero-Aspizua Marta García Agustí Toll Eulalia Baselga Maria Durán-Moreno Jelena Markovic Jose Manuel García-Verdugo Claudio J Conti Cristina Has Fernando Larcher Federico V Pallardó Marcela Del Rio

BACKGROUND Kindler Syndrome (KS) is an autosomal recessive skin disorder characterized by skin blistering, photosensitivity, premature aging, and propensity to skin cancer. In spite of the knowledge underlying cause of this disease involving mutations of FERMT1 (fermitin family member 1), and efforts to characterize genotype-phenotype correlations, the clinical variability of this genodermatosi...

Journal: :Journal of the American Society of Nephrology : JASN 2013
Raimund Hirschberg

The founding member of the Kindlin family of proteins, Kindlin-1, received its namewhen itwas shown that a loss-offunction mutation in its gene gives rise to a rare, autosomalrecessive disease of the skin calledKindler syndrome (poikiloderma with blisters and keratosis).1 Kindlin-1 is a constituent of focal adhesions in keratinocytes and interacts with b-integrins. The Kindlin family of focal a...

Journal: :iScience 2021

•Multi-omics approaches identify unique signatures•Whole-exome sequencing reveals distinct cytokine profiles•Expression of GATA4, PF4, and LST1 is dysregulated Autosomal recessive mutations in G6PC3 cause isolated syndromic congenital neutropenia which includes heart disease atypical inflammatory bowel (IBD). In a highly consanguineous pedigree with novel MPL, we performed comprehensive multi-o...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید