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research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.

29 citations , January 1996 in “The Journal of Clinical Endocrinology & Metabolism”

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

research Disease causing homozygous variants in the human hairless gene

7 citations , December 2015 in “International Journal of Dermatology”

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis

11 citations , April 2012 in “Journal of Investigative Dermatology”

A specific mutation in PA-PLA1α causes abnormal hair growth.

research DYS459, DYS391, DYS388 and DYS19 genetic loci have high allelic frequency in patients with prostate cancer

August 2015 in “International Journal of Genetics and Molecular Biology”

Certain genetic markers may increase or decrease prostate cancer risk.

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 XEDAR activates the non-canonical NF-κB pathway

18 citations , August 2015 in “Biochemical and Biophysical Research Communications”

XEDAR triggers a specific signaling pathway in cells.

research Pachyonychia congenita: Sporadic onset with mutation analysis

January 2023 in “Indian dermatology online journal”

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

TRPS1 Mutation Associated with Trichorhinophalangeal Syndrome Type 1 with 15 Supernumerary Teeth, Hypoplastic Mandibular Condyles with Slender Condylar Necks and Unique Hair Morphology

research TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology

9 citations , April 2020 in “Journal of dermatology”

A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.

research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome

1 citations , January 2022 in “Annals of Dermatology”

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

8 citations , December 2016 in “Hormone Research in Paediatrics”

Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan

August 2020 in “Pakistan Journal of Zoology”

A new mutation in the Hairless gene causes hair loss in two Pakistani families.

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 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation

April 2017 in “Journal of Investigative Dermatology”

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene

13 citations , January 2018 in “Yonsei Medical Journal”

A specific gene mutation causes Olmsted syndrome.

research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy

5 citations , May 2014 in “Clinical and Experimental Dermatology”

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.

research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy

April 2026 in “Cureus”

A rare case of hypotrichosis with juvenile macular dystrophy (HJMD) was identified in a six-year-old Saudi girl with sparse scalp hair and progressive vision loss. Born to consanguineous parents, she exhibited symptoms from birth, including decreased night vision and cone-rod dysfunction. Genetic analysis revealed a homozygous missense mutation, c.1918T>G (p.Cys640Gly), in the CDH3 gene. This finding contributes to the understanding of the genetic spectrum of HJMD in Saudi Arabia, highlighting the importance of genetic evaluation in patients with similar clinical features.

research KRT16 wt Allele

February 2020 in “Definitions”

Mutations in the KRT16 gene can cause skin and nail disorders.

research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants

13 citations , June 2024 in “Frontiers in Genetics”

About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.

research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2

175 citations , September 1998 in “British Journal of Dermatology”

Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.

research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.

May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature”

A mutation in the KRT74 gene causes woolly hair by affecting hair texture.

research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies

3 citations , June 2022 in “European journal of human genetics”

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice

7 citations , August 2008 in “Immunogenetics”

A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.

research Reply

1 citations , October 2000 in “Journal of Investigative Dermatology”

The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.

research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.

May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature”

A mutation in the KRT74 gene causes woolly hair by affecting hair texture.

research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting

46 citations , May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology”

Significant progress was made in understanding PXE, but effective treatments are still needed.

research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome

11 citations , January 2021 in “British Journal of Dermatology”

Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.

research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation

9 citations , June 2017 in “American journal of ophthalmology. Case reports”

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis

33 citations , September 2017 in “Journal of Investigative Dermatology”

A mutation in the KRT25 gene causes woolly hair and hair loss.

research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi

1 citations , April 2024 in “Animal Genetics”

A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.

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.

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