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A Spontaneous Deletion Within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype

research A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype

11 citations , December 2014 in “The American journal of pathology”

A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.

research Roles of two sphingomyelin synthase isoforms in murine hair

September 2016 in “Journal of Dermatological Science”

Both SMS1 and SMS2 are crucial for normal hair growth and cycle in mice.

research MiR-23b and miR-133 Cotarget TGFβ2/NOTCH1 in Sheep Dermal Fibroblasts, Affecting Hair Follicle Development

4 citations , March 2024 in “Cells”

MiR-23b and miR-133 affect sheep hair growth by targeting specific genes.

research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II

18 citations , November 2009 in “Calcified tissue international”

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

research Activation of the transcription factor Gli1 and the Sonic hedgehog signalling pathway in skin tumours

638 citations , October 1997 in “Nature”

research Exploiting molecular genetic diagnoses of polycystic ovary syndrome to achieve better patient outcome

January 2018 in “Murdoch Research Repository (Murdoch University)”

Improved genetic diagnosis of PCOS can lead to better patient outcomes.

research Comparison of hair manifestations in cardio‐facio‐cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth

10 citations , November 2019 in “Journal of the European Academy of Dermatology and Venereology”

The RAS pathway affects hair growth differently in CFCS and CS.

research El teorema del 0,7 o el otro teorema de Pitágoras

January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"”

A CCS patient with severe complications was successfully treated using combined therapies.

research Aberrant Activation of the Hedgehog Pathway in Cutaneous Melanoma: Therapeutic Potential of Pharmacological Inhibitors

January 2026 in “International Journal of Molecular Sciences”

Hedgehog pathway inhibitors could be effective in treating melanoma.

research The impact of certain genetic variants (single nucleotide polymorphisms) on incidence and severity of COVID‐19

7 citations , January 2021 in “The journal of gene medicine”

Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.

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