Nada Danial‐Farran

Emek Medical Center — Israel

Biochemistry, Genetics and Molecular Biology · Life Sciences

9h-index282citations33works1.42yr avg
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Research Topics

Skin and Cellular Biology Research(7), Hearing, Cochlea, Tinnitus, Genetics(5), RNA regulation and disease(5), Connexins and lens biology(4), Genetic and rare skin diseases.(3)

Publications33 total

Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
Journal of Medical Genetics·2025
CARMIL2 deficiency disrupts activation-induced metabolic reprogramming in T cells and is partially rescued by glutamine supplementation
Journal of Allergy and Clinical Immunology·2025· 3 citedOpen Access
POS0854 TRANSCRIPTOMIC ANALYSIS REVEALS DIFFERENT GENE SIGNATURES ASSOCIATED WITH INFLAMMATION OF SMALL VESSELS SURROUNDING A NORMAL TEMPORAL ARTERY BY ANCA-ASSOCIATED VASCULITIS (AAV) COMPARED TO GIANT-CELL ARTERITIS (GCA)
Annals of the Rheumatic Diseases·2025Open Access
OP0021 Complement fraction C5a, C5a receptor 1, and its associated signaling signature are overexpressed in giant-cell arteritis lesions
Annals of the Rheumatic Diseases·2025Open Access
412 Persistent cutaneous lesions of darier disease are associated with second-hit somatic variants in ATP2A2 gene
Journal of Investigative Dermatology·2024
OP0082 GENE EXPRESSION PROFILE OF CD4+ T LYMPHOCYTES IS MODIFIED IN EOSINOPHILIC GRANULOMATOSIS WITH POLYANGIITIS (EGPA)
Annals of the Rheumatic Diseases·2024· 1 cited
Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in <i>ATP2A2</i> Gene
JAMA Dermatology·2024· 6 citedOpen Access
65 Persistent cutaneous lesions of darier disease are associated with second-hit somatic variants in ATP2A2 gene
Journal of Investigative Dermatology·2023Open Access
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
The American Journal of Human Genetics·2023· 14 citedOpen Access
Genetic variant in complement receptor 1 (CR1, CD35) is associated with a cluster of severe fatal COVID-19 in a family
Journal of Infection·2023· 3 citedOpen Access
Potential <scp>di‐genic</scp> contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex
Experimental Dermatology·2022· 2 cited
A homozygous variant in <i>CHMP3</i> is associated with complex hereditary spastic paraplegia
Journal of Medical Genetics·2022· 5 cited
Concomitant variants in <i>NF1</i>, <i>LZTR1</i> and <i>GNAZ</i> genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor
Experimental Dermatology·2021· 3 cited
Parental mosaic cutaneous‐gonadal <i>GJB2</i> mutation: From epidermal nevus to inherited ichthyosis‐deafness syndrome
The Journal of Dermatology·2021· 5 cited
175 Concomitant LZTR1 and NF1 mutations contribute to the diversity of the Neurofibromatosis 1 phenotypic spectrum
Journal of Investigative Dermatology·2021
Acral peeling in Nagashima type palmo‐plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion
Experimental Dermatology·2021· 11 citedOpen Access
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes
Clinical Genetics·2021· 3 cited
Author response for "The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes"
2021
Author response for "The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes"
2021Open Access
Homozygote loss-of-function variants in the human COCH gene underlie hearing loss
European Journal of Human Genetics·2020· 11 citedOpen Access
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Frequent Co-authors

Morad Khayat(19), Eran Cohen‐Barak(16), Stavit A. Shalev(12), Michael Ziv(12), Elena Chervinsky(7), Fadia Zagairy(6), Karen B. Avraham(5), Chen Gafni‐Amsalem(5), Shahar Taiber(4), Yoav Zehavi(4), Yasmin Tatour(4), Joël Zlotogora(4), Zippora Brownstein(3), Süleyman Gülsüner(3), Mary‐Claire King(3), Lisa M. Godsel(3), Jennifer L. Koetsier(3), Judit Krausz(3), Stavit Shalev(3), Lihi Atzmony(3)