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research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot

April 2026 in “Human Genome Variation”

This study reports on a Pakistani family with three individuals affected by IFAP syndrome type I, linked to the recurrent MBTPS2 splice-site variant c.970+5G>A. This variant has also been identified in Chinese and Argentinian families. Haplotype analyses indicate that this is a recurrent mutational hotspot rather than a result of a founder effect. The study also notes variability in phenotypic severity among the families, suggesting the presence of additional modifying factors.

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 Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing

October 2023 in “Psychiatry research. Case reports”

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

research Deciphering the pathogenesis of central centrifugal cicatricial alopecia

September 2019

Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.

research 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia

September 2019 in “Journal of Investigative Dermatology”

CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.

research A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform

28 citations , December 1997 in “Journal of Biological Chemistry”

A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.

research A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats

40 citations , June 2013 in “Scientific Reports”

A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.

research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study

February 2026 in “Frontiers in Medicine”

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.

research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71

75 citations , October 2010 in “Mammalian genome”

Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.

research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum

November 2025 in “Journal of Investigative Dermatology”

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

research Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles

10 citations , May 2020 in “International Journal of Molecular Sciences”

Hair follicles can be used to study gene mutations in Stargardt disease.

research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome

4 citations , December 2016 in “Blood”

A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.

Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review

research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review

9 citations , February 2018 in “The Journal of Dermatology”

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review

research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review

March 2024 in “Frontiers in endocrinology”

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review

research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature

11 citations , January 2020 in “BMC pediatrics”

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

research Recent discoveries and developments of androgen receptor based therapy for prostate cancer

17 citations , January 2015 in “MedChemComm”

New treatments for prostate cancer are less toxic and show promise, but more research is needed to enhance their effectiveness and reduce side effects.

25 Years of Estrogen Receptor Beta: A Personal Journey

research 25 years of ERβ: a personal journey

11 citations , September 2021 in “Journal of molecular endocrinology”

ERβ has potential in treating prostate cancer and neurodegenerative diseases, but human studies are needed before clinical use.

research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients

43 citations , April 2010 in “Clinical genetics”

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

24 citations , May 2019 in “PLOS genetics”

Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.

research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family

4 citations , December 2021 in “Journal of clinical laboratory analysis”

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed

27 citations , June 2020 in “Genes”

Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.

research Polymorphism of the Androgen Receptor Gene is Associated with Male Pattern Baldness

299 citations , March 2001 in “Journal of Investigative Dermatology”

Male pattern baldness is linked to specific genetic variations in the androgen receptor gene.

Research Snippets: Dermatological Genetics and Conditions

research Research Snippets

July 2005 in “British Journal of Dermatology”

New gene mutations linked to skin conditions were found, bacteria and chemicals may worsen acne, a dog mutation could exist in humans, virus-like elements might be involved in psoriasis, and a vitamin D3 treatment doesn't prevent chemotherapy-related hair loss.

Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching Is an Integrated Measure of Receptor Function

research Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching (FRAP) Is an Integrated Measure of Receptor Function

31 citations , July 2004 in “Molecular Medicine”

Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.

research Against the Rules: Human Keratin K80

40 citations , September 2010 in “Journal of Biological Chemistry”

Keratin K80 is an ancient protein found in various tissues, important for cell structure and tissue differentiation.

research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene

December 2023 in “JCEM case reports”

A new gene variant causes glucocorticoid resistance in a mother and son.

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

53 citations , August 2019 in “American journal of human genetics”

FOXN1 gene variants cause low T cells and immune issues from birth.

WNT10B (Wingless-Type MMTV Integration Site Family): Role in Biological Processes and Diseases

research WNT10B (wingless-type MMTV integration site family)

November 2018 in “Atlas of genetics and cytogenetics in oncology and haematology”

WNT10B is linked to cancer development and affects survival and disease progression in various cancers.

research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia

195 citations , June 2005 in “American Journal of Human Genetics”

Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.

research Werewolf, there wolf: variants in Hairless associated with hypotrichia and roaning in the lykoi cat breed

3 citations , May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.