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Intratumoral De Novo Steroid Synthesis Activates Androgen Receptor in Castration-Resistant Prostate Cancer and Is Upregulated by Treatment with CYP17A1 Inhibitors

research Intratumoral De Novo Steroid Synthesis Activates Androgen Receptor in Castration-Resistant Prostate Cancer and Is Upregulated by Treatment with CYP17A1 Inhibitors

402 citations , August 2011 in “Cancer research”

Prostate cancer cells can make their own androgens to activate the androgen receptor, and treatments like abiraterone may increase this ability, suggesting new therapies should target the entire steroid-making pathway.

research Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

February 2026 in “The Laryngoscope”

This document reports the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X-linked dominant form of chondrodysplasia punctata. A 2-month-old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress. The condition was successfully managed with serial endoscopic balloon dilations, which restored airway patency, enabled weaning from respiratory support, and avoided the need for tracheostomy. This case expands the recognized clinical spectrum of CDPX2 and highlights the potential role of minimally invasive airway intervention in selected cases. Early recognition and proactive airway management are essential for improving outcomes in these patients.

research LB919 Increased risk of skin cancer and other malignancies in patients with cutaneous lupus erythematous

July 2024 in “Journal of Investigative Dermatology”

Patients with cutaneous lupus erythematosus have a higher risk of skin cancer and other cancers.

Mutational Spectrum of EDA, EDAR, EDARADD, and WNT10A Genes in the Largest Cohort of Russian Patients With Hypohidrotic Ectodermal Dysplasia

research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia

February 2026 in “Orphanet Journal of Rare Diseases”

Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.

research 889 Trpv3 gain-of-function mutation impairs differentiation of hair follicle inner root sheath

April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology”

A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.

research Deletion of the Sox21 gene drastically affects hair lipids

2 citations , October 2012 in “Experimental Dermatology”

Deleting the Sox21 gene changes hair lipid composition and increases cholesterol sulfate levels.

research A kindred with mutant IKAROS and autoimmunity

37 citations , April 2018 in “Journal of Allergy and Clinical Immunology”

A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.

research Decision letter: Loss of Dnmt3a and Dnmt3b does not affect epidermal homeostasis but promotes squamous transformation through PPAR-γ

November 2016

Loss of Dnmt3a and Dnmt3b increases aggressive skin tumors by affecting PPAR-γ.

research 237 Unveiling Skin Cancers Pathophysiology via the Modeling of Xeroderma Pigmentosum Disease Modeling Using CRISPR-Cas9 Technology

November 2024 in “Journal of Investigative Dermatology”

Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.

research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

47 citations , December 2019 in “Frontiers in immunology”

A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.

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 42761 The elusive BAP1 mutation in pediatric melanocytic tumors

September 2023 in “Journal of the American Academy of Dermatology”

BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.

research Scraggly, a new hair loss mutation on mouse Chromosome 19

14 citations , September 1999 in “Mammalian genome”

The scraggly mutation causes hair loss and skin defects in mice.

research Identificación de la variación molecular y genética subyacente a las enfermedades de la piel

January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)”

Non-coding RNAs may be key in diagnosing and treating rare skin disorders.

research Ovine KRT81 Variants and Their Influence on Selected Wool Traits of Commercial Value

4 citations , May 2024 in “Genes”

KRT81 gene variations in sheep affect wool weight but not fiber length or thickness.

research Multi-omics analysis unveils the role of cancer-associated fibroblasts in cutaneous squamous cell carcinoma

November 2025 in “Cancer Cell International”

Cancer-associated fibroblasts promote tumor growth in skin cancer.

research Phenotypic variability associated withWNT10Anonsense mutations

28 citations , February 2010 in “British journal of dermatology/British journal of dermatology, Supplement”

WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.

research Mutation des menschlichen hairless -Gens bei Atrichia universalis

2 citations , September 1998 in “Der Hautarzt”

A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.

research ADAM17 variant causes hair loss via ubiquitin ligase TRIM47 mediated degradation

May 2024 in “JCI insight”

A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.

Triad of Keratosis Pilaris, Ulerythema Ophryogenes, and 18p Monosomy: Zouboulis Syndrome

research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome

15 citations , May 2014 in “Journal of dermatology”

Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.

research Two siblings with uncombable hair syndrome: A new pathogenic variant

2 citations , March 2024 in “Pediatric Dermatology”

Two siblings have a rare hair condition caused by a new genetic variant.

research Gene detection in a family with monilethrix and observation of the treatment effect with 5% topical minoxidil

September 2022 in “Research Square (Research Square)”

5% topical minoxidil improves hair density and quality in monilethrix patients.

research Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fz^ica) mice points to fuzzy as a key element of hair cycle control

20 citations , July 2005 in “Experimental dermatology”

The fuzzy gene is crucial for controlling hair growth cycles.

research 666 Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in follicular dystrophy and primary cicatricial alopecia

April 2018 in “Journal of Investigative Dermatology”

Mutations in Far2 mice cause hair loss due to sebaceous gland issues.

research Identical p53 gene mutation in malignant proliferating trichilemmal tumour of the scalp and small cell carcinoma of the common bile duct: the necessity for therapeutic caution?

11 citations , May 2008 in “British journal of dermatology/British journal of dermatology, Supplement”

Identical p53 gene mutations in different cancers suggest the need for careful treatment.

research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction

16 citations , September 2015 in “International Journal of Molecular Sciences”

A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation

11 citations , July 2010 in “European Journal of Dermatology”

The condition is linked to chromosome 12, but no mutations were found in the known genes.

research Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome

2 citations , February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)”

Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.

research Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

139 citations , September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.

research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

7 citations , June 2016 in “Bone Research”

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

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