The kindlin family: functions, signaling properties and implications for human disease

E Rognoni, R Ruppert, R Fässler - Journal of cell science, 2016 - journals.biologists.com
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 …

Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases

H Montaudié, C Chiaverini, E Sbidian… - Orphanet journal of rare …, 2016 - Springer
Background Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group
of rare diseases characterized by exacerbated skin and/or mucosal fragility and blister …

Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history

C Has, D Castiglia, M del Rio, M Garcia Diez… - Human …, 2011 - Wiley Online Library
Mutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein
kindlin‐1, underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with an …

Kindlin-1 controls Wnt and TGF-β availability to regulate cutaneous stem cell proliferation

E Rognoni, M Widmaier, M Jakobson, R Ruppert… - Nature medicine, 2014 - nature.com
Kindlin-1 is an integrin tail binding protein that controls integrin activation. Mutations in the
FERMT-1 gene, which encodes for Kindlin-1, lead to Kindler syndrome in man, which is …

Kindler syndrome: a focal adhesion genodermatosis

JE Lai‐Cheong, A Tanaka, G Hawche… - British Journal of …, 2009 - academic.oup.com
Kindler syndrome (OMIM 173650) is an autosomal recessive genodermatosis characterized
by trauma‐induced blistering, poikiloderma, skin atrophy, mucosal inflammation and varying …

Kindler syndrome

JE Lai-Cheong, JA McGrath - Dermatologic clinics, 2010 - derm.theclinics.com
Understanding of blistering skin disorders involving the dermal-epidermal junction (DEJ)
has improved considerably over the past 2 decades. This has been possible with the …

The role of kindlins in cell biology and relevance to human disease

JE Lai-Cheong, M Parsons, JA McGrath - The international journal of …, 2010 - Elsevier
The kindlins represent a class of focal adhesion proteins implicated in integrin activation.
They comprise three evolutionarily conserved members, kindlin-1, kindlin-2 and kindlin-3 …

Kindling the flame of integrin activation and function with kindlins

EF Plow, J Qin, T Byzova - Current opinion in hematology, 2009 - journals.lww.com
Kindling the flame of integrin activation and function with... : Current Opinion in Hematology
Kindling the flame of integrin activation and function with kindlins : Current Opinion in …

[HTML][HTML] Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome

JE Lai-Cheong, S Ussar, K Arita, IR Hart… - Journal of investigative …, 2008 - Elsevier
Kindler syndrome (KS) results from pathogenic loss-of-function mutations in the KIND1
gene, which encodes kindlin-1, a focal adhesion and actin cytoskeleton-related protein. How …

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients

S Guerrero-Aspizua, CJ Conti, MJ Escamez… - Orphanet journal of rare …, 2019 - Springer
Abstract Background Kindler Syndrome (KS) is a rare genodermatosis characterized by skin
fragility, skin atrophy, premature aging and poikiloderma. It is caused by mutations in the …