[HTML][HTML] Pachyonychia congenita

FJD Smith, CD Hansen, PR Hull, RL Kaspar… - 2017 - europepmc.org
Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful
palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts …

Planar cell polarity (PCP) proteins support spermatogenesis through cytoskeletal organization in the testis

L Wang, T Bu, L Li, X Wu, CKC Wong, A Perrotta… - Seminars in Cell & …, 2022 - Elsevier
Few reports are found in the literature regarding the role of planar cell polarity (PCP) in
supporting spermatogenesis in the testis. Yet morphological studies reported decades …

[HTML][HTML] Chromosome-level genome sequencing and multi-omics of the Hungarian White Goose (Anser anser domesticus) reveals novel miRNA-mRNA regulation …

Y Zhou, I Mabrouk, J Ma, Q Liu, Y Song, G Xue, X Li… - Poultry Science, 2024 - Elsevier
ABSTRACT The Hungarian White Goose (Anser anser domesticus) is an excellent
European goose breed, with high feather and meat production. Despite its importance in the …

Construction of Fzd6Q152E mice through CRISPR/Cas9 technology and their reproduction and identification

X Yan, J Yang, L Xiao, J Gao, G Xu, L Wang… - Molecular Biology …, 2022 - Springer
Abstract Background The CRISPR/Cas9 system is widely used for genome editing in
human, rat and mouse cells. In this study, we established Fzd6 mutant mice using …

Pachyonychia congenita: Clinical features and future treatments

RL Mccarthy, E O'toole - The Keio Journal of Medicine, 2023 - jstage.jst.go.jp
Pachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of
keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar …

A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a Moroccan family

PL Lanvin, L Lebreton, E Lasseaux… - Clinical and …, 2023 - academic.oup.com
This report describes a patient with a novel homozygous nonsense variant, nail dysplasia
and diabetes. Only a few patients have been described with FZD6 mutations and nail …

A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia

C Saygı, Y Alanay, U Sezerman, A Yenenler… - BMC medical …, 2019 - Springer
Background Autosomal recessive nail dysplasia is characterized by thick and hard nails with
a very slow growth on the hands and feet. Mutations in FZD6 gene were found to be …

Efficacy of fluocinonide\bifonazole cream for the treatment of trachyonychia: A retrospective case series

A Shemer, R Daniel, R Kassem, N Sharon… - Indian Journal of …, 2022 - journals.lww.com
Background: Trachyonychia is a benign nail condition, most commonly seen in children.
Trachyonychia manifests as excessive longitudinal ridging, nail roughness, and nail …

A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred

J Mohammadi-Asl, MR Pourreza, A Mohammadi… - Journal of …, 2017 - Elsevier
Background Nail disorder nonsyndromic congenital (NDNC) is a very rare clinically and
genetically heterogeneous disease inherited both in recessive or dominant modes. FZD6 is …

[HTML][HTML] First report of a known pathogenic variant in the FZD6 gene, in an Iranian family with recessive nail dysplasia: A case report

MMAG Cheshmeh, A Najizadeh… - Iranian Journal of …, 2019 - ncbi.nlm.nih.gov
Congenital Nail abnormalities are rare ectodermal defects. Autosomal recessive nail
dysplasia is much rarer. Recently it has been recognized as a condition resulting in nail …