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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 Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11

27 citations , April 2004 in “Biochemical and Biophysical Research Communications”

Two new gene clusters important for hair formation were found on human chromosome 11.

research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families

5 citations , February 2022 in “Molecular genetics & genomic medicine”

New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.

research 42004 Scalp, eyebrow, and eyelash hair regrowth with continued ritlecitinib treatment among patients with alopecia areata without target efficacy response at Week 24: post hoc analysis of the ALLEGRO phase 2b/3 study

1 citations , September 2023 in “Journal of the American Academy of Dermatology”

research The mouse frizzy (fr) and rat ‘hairless’ (fr^CR) mutations are natural variants of protease serine S1 family member 8 (Prss8)

28 citations , February 2010 in “Experimental Dermatology”

The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.

research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts

September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology”

Three genes linked to the development of trichilemmal cysts were found.

research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia

7 citations , June 2011 in “Movement Disorders”

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome

July 2024 in “Journal of Investigative Dermatology”

A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.

research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome

1 citations , September 2019 in “Steroids”

Two new mutations in the AR gene linked to severe androgen insensitivity were found.

research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient

3 citations , January 2021 in “Molecular genetics & genomic medicine”

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix

3 citations , February 2011 in “Journal of Biomedical Research/Journal of biomedical research”

A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.

research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response

5 citations , December 2014 in “Molecular cytogenetics”

A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.

A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome

research A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome

December 2023 in “American journal of medical genetics. Part A”

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

research 50107 Mohs micrographic surgery tourism: can we accurately verify credentials of international surgeons?

September 2024 in “Journal of the American Academy of Dermatology”

Studying Cytotoxic T-Lymphocyte-Associated Antigen-4 (CTLA-4) Gene Polymorphism in a Sample of Iraqi Women with Polycystic Ovarian Syndrome

research Studying Cytotoxic T-lymphocyte- Associated Antigen-4 (CTLA-4) gene Polymorphism in a Sample of Iraqi Women with Polycystic Ovarian Syndrome

2 citations , December 2019 in “Al-ʻulūm al-ṣaydalāniyyaẗ”

The CTLA-4 gene change studied does not affect Polycystic Ovarian Syndrome in the women tested.

research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome

April 2016

ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.

research Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing

1 citations , March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)”

Low-coverage sequencing is a cost-effective way to identify genes related to wool traits in rabbits.

research Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia

5 citations , March 2005 in “Journal of The American Academy of Dermatology”

research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome

April 2017 in “Journal of Investigative Dermatology”

Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.

research Sequence Variation in Caprine KRTAP6-2 Affects Cashmere Fiber Diameter

2 citations , August 2022 in “Animals”

Different versions of the KRTAP6-2 gene in goats can lead to thinner cashmere fibers.

research Transcriptome-based Selection and Validation of Optimal House-keeping Genes for Skin Research in Goats (Capra hircus)

July 2020

NCBP3, SDHA, and PTPRA are the best genes for normalizing goat skin experiments.

research Identification of Ovine KRTAP28-1 and Its Association with Wool Fibre Diameter

25 citations , April 2019 in “Animals”

KRTAP28-1 gene can help breed sheep with finer wool.

research IGF2BP2 and IGFBP3 Genotypes, Haplotypes, and Genetic Models Studies in Polycystic Ovary Syndrome

6 citations , March 2024 in “Journal of Clinical Laboratory Analysis”

Certain genetic variations in IGF2BP2 and IGFBP3 are linked to a higher risk of PCOS.

Type A Insulin Resistance Syndrome Due to a Novel Heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR Gene Mutation in an Adolescent Girl and Her Mother

research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother

January 2024 in “Archives of Endocrinology and Metabolism”

A new gene mutation causes insulin resistance in a girl and her mother.

research Acute dermal and ocular irritation testing of rice bran supercritical CO2 extract (RB-SCE) and 0.5% RB-SCE essence product

2 citations , March 2015 in “Toxicology and Environmental Health Sciences”

Rice bran extract caused moderate skin irritation but no eye irritation, while a diluted essence was not irritating to skin and only slightly to guinea pigs.