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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.

research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene

94 citations , April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

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 A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation

21 citations , October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology”

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes

September 2016 in “Journal of Dermatological Science”

A gene mutation worsens skin irritation in mice due to a lack of certain fats.

research Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology

33 citations , February 2012 in “British Journal of Dermatology”

Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.

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 Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations

September 2022 in “Indian Journal of Paediatric Dermatology”

Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation

53 citations , October 2003 in “Genetics”

The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.

research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome

1 citations , August 2019 in “Journal of pediatric & adolescent gynecology”

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome

14 citations , March 2018 in “The American journal of case reports”

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6

29 citations , August 1999 in “Journal of Investigative Dermatology”

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

research The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein

1 citations , July 2007 in “Journal of Investigative Dermatology”

The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.

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 Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion

4 citations , October 2021 in “Journal of Clinical Medicine”

Carriers of a specific gene mutation have subtle skin changes without visible symptoms.

research The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep

January 2002 in “Agritrop (Cirad)”

The hr gene is linked to hair loss in Valle del Belice sheep.

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 Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis

74 citations , January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene

10 citations , January 2014 in “Journal of Pediatric Endocrinology and Metabolism”

Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.

research 0749 Serine and arginine-rich splicing factor 3 regulates epidermal differentiation in cutaneous squamous cell carcinoma

July 2025 in “Journal of Investigative Dermatology”

research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis

23 citations , December 2013 in “British Journal of Dermatology”

A new gene mutation linked to a skin condition was found in a Spanish family.

research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain

14 citations , September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology”

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

Marie Unna Hereditary Hypotrichosis Caused by a Novel Mutation in the Human Hairless Transcript

research The peach RGF/GLV signalling peptide pCTG134 is involved in a regulatory circuit that sustains auxin and ethylene actions

May 2017 in “bioRxiv (Cold Spring Harbor Laboratory)”

The peach gene pCTG134 helps control the interaction between auxin and ethylene hormones during fruit ripening.

research Polymorphism of Exon V of prolactin gene and its association with Cashmere traits in Changthangi Pashmina goats

October 2017 in “The Indian Journal of Animal Sciences”

The prolactin gene polymorphism doesn't affect cashmere quality in these goats.

research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita

22 citations , February 2012 in “Journal of Investigative Dermatology”

A specific gene mutation causes severe skin and nail issues and hair loss.

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 A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

60 citations , March 2006 in “Journal of Medical Genetics”

A mutation in the KRTHB5 gene causes hair and nail issues.

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