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research Abstract 1835: Development of mammary hyperplasia, dysplasia, and invasive ductal carcinoma in transgenic mice expressing the 8p11 amplicon oncogene NSD3 (WHSC1L1)

1 citations , July 2017 in “Cancer Research”

Overexpressing NSD3 in mice causes breast cancer-like tumors and gland abnormalities.

research Citalopram and finasteride with the lot number FI0510058-A have been voluntarily recalled by Greenstone, after a labelling error

April 2011 in “Reactions Weekly”

research Defective trophoblast function in mice with a targeted mutation of Ets2

301 citations , May 1998 in “Genes & Development”

Ets2 gene is crucial for placental development in mice.

research Hair Replacement System in Miami -708

June 2023 in “Zenodo (CERN European Organization for Nuclear Research)”

research 778 Designing and utilizing a c-Rel specific bioassay in drug repurposing screen for HNSCC

July 2024 in “Journal of Investigative Dermatology”

A new test helps find drugs to treat head and neck cancer by targeting c-Rel.

Diagnostic Value of Chromosomal Microarray Analysis in Patients With Congenital Anomalies and Dysmorphic Features; Details of Two New Patients With 2q33 Deletions

research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS

December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi”

Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.

research Independent DSG4 frameshift variants in cats with hair shaft dystrophy

December 2021 in “Molecular genetics and genomics”

Cats with abnormal hair had DSG4 gene changes causing hair problems.

research 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation

November 2022 in “Journal of Investigative Dermatology”

Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.

research A novel derivative of doxorubicin, AD198, inhibits canine transitional cell carcinoma and osteosarcoma cells in vitro

12 citations , September 2015 in “Drug Design Development and Therapy”

AD198 is more effective than doxorubicin in stopping certain dog cancer cells.

research Synchronous fluorescence as a green and selective method for the simultaneous determination of finasteride and tadalafil in dosage form and spiked human plasma

May 2023 in “Spectrochimica Acta Part A: Molecular and Biomolecular Spectroscopy”

A new green method accurately measures finasteride and tadalafil in drugs and plasma.

research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13

51 citations , December 2006 in “Mammalian Genome”

research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother

January 2026 in “American Journal of Medical Genetics Part A”

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

research HOXC8 initiates an ectopic mammary program by regulating Fgf10 and Tbx3 expression, and Wnt/β-catenin signaling

19 citations , January 2015 in “Development”

Hoxc8 gene helps start mammary gland development by controlling specific signals.

research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb

5 citations , June 2008 in “British Journal of Dermatology”

A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome

research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome

1 citations , November 2024 in “Diabetes Metabolic Syndrome and Obesity”

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

Effect of the Polymorphisms of Keratin Associated Protein 8.2 Gene on Fiber Traits in Inner Mongolia Cashmere Goats

research Effect of the Polymorphisms of Keratin Associated Protein 8.2 Gene on Fibre Traits in Inner Mongolia Cashmere Goats

20 citations , May 2007 in “Asian-Australasian Journal of Animal Sciences”

KAP8.2 gene variations affect cashmere quality in goats.

research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)

28 citations , June 1998 in “Clinical Genetics”

Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.

research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b

4 citations , December 2013 in “The Journal of Dermatology”

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

research DAB-labelling for collagen type III and PDGFR as control on equine skin sections.

November 2025 in “OPAL (Open@LaTrobe) (La Trobe University)”

DAB labeling effectively identifies collagen type III and PDGFR in horse skin, but may show false positives.

research Identification of seven new prostate cancer susceptibility loci through a genome-wide association study

November 2020 in “UNC Libraries”

Seven new genetic risk areas for prostate cancer were found.

research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations

11 citations , December 2013 in “Clinical and experimental dermatology”

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.

Efficient Genome Editing Using CRISPR/Cas9 Ribonucleoprotein Approach in iPS Cells for Recessive Dystrophic Epidermolysis Bullosa

research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa

April 2019 in “Journal of Investigative Dermatology”

Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.

research 267 Single- and multiple-ascending dose studies of DS-2325a, a KLK5 inhibitor for the treatment of Netherton syndrome

July 2024 in “Journal of Investigative Dermatology”

DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.

research 085 Coordinate expressions of cyclin-dependent kinase inhibitors and high sulfur protein in human hair follicles

June 1996 in “Journal of Dermatological Science”

research Finasteride

January 2026 in “Elsevier eBooks”

research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

36 citations , July 2014 in “Neuromuscular Disorders”

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells

1 citations , September 2019 in “Journal of Investigative Dermatology”

The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.

Genotypes of Single-Nucleotide Polymorphisms on DENND1A in Association with Polycystic Ovary Syndrome Among Saudi Arabian Females

research Genotypes of Single-nucleotide polymorphisms on DENND1A in an association with polycystic ovary syndrome among Saudi Arabian females

July 2025

SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.

research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient

January 2022 in “International journal of dermatology and venereology”

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

research Phase I safety and pharmacokinetic study of SU-014813 in combination with docetaxel in patients with advanced solid tumours

22 citations , May 2011 in “European Journal of Cancer”

The drug combination was safe and showed promise in treating advanced tumors.

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