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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 AP-1 and TGFß cooperativity drives non-canonical Hedgehog signaling in resistant basal cell carcinoma

60 citations , October 2020 in “Nature Communications”

AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.

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 The alopecia areata phenotype is induced by the water avoidance stress test in cchcr1-deficient mice

December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.

Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression, with Alopecia Areata in Males: A Case-Control Study

research Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case–control Study

8 citations , October 2019 in “Immunological investigations”

The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.

research Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss

19 citations , July 2020 in “EBioMedicine”

A gene variant increases the risk of a type of hair loss by affecting hair protein production.

research CXXC5: A novel regulator and coordinator of TGF-β, BMP and Wnt signaling

28 citations , November 2018 in “Journal of Cellular and Molecular Medicine”

CXXC5 is a protein that controls cell growth and healing processes, and changes in its activity can lead to diseases like cancer and hair loss.

research 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia

November 2024 in “Journal of Investigative Dermatology”

Genetic changes in specific proteins contribute to hair loss in some women of African descent.

research Identification of Potential Hub Genes in Alopecia Areata

4 citations , October 2024 in “Experimental Dermatology”

CD8A and FOXD2-AS1 may be key for diagnosing and treating alopecia areata.

research Gene expression profiling suggests severe, extensive central centrifugal cicatricial alopecia may be both clinically and biologically distinct from limited disease subtypes

11 citations , January 2022 in “Experimental Dermatology”

Severe CCCA may be biologically and clinically different from milder forms.

Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion

research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion

72 citations , November 2012 in “PloS one”

The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.

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.

research Variant PADI3 in Central Centrifugal Cicatricial Alopecia

95 citations , February 2019 in “The New England Journal of Medicine”

Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.

research Deletions in the KAP6-1 gene are associated with fiber traits in cashmere-producing goats

1 citations , February 2021 in “Animal biotechnology”

Certain changes in the KAP6-1 gene affect the thickness and length of cashmere goat fibers.

research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse

July 2009 in “TSpace”

The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.

research BAF200 Is Required for Heart Morphogenesis and Coronary Artery Development

30 citations , October 2014 in “PLOS ONE”

BAF200 is essential for proper heart and coronary artery formation.

research DEFINING THE ROLE OF ABI1 GENE IN PROSTATE CANCER PROGRESSION AND TREATMENT RESISTANCE

January 2024 in “Wiadomości Lekarskie”

The ABI1 gene contributes to prostate cancer progression and treatment resistance.

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 Acyl-CoA binding protein and epidermal barrier function

15 citations , March 2014 in “Biochimica and biophysica acta. Molecular and cell biology of lipids”

ACBP is essential for healthy skin and fur by maintaining the skin's barrier function.

BRCA2 in Abscission: Role in Cytokinesis and Recruitment of Abscission Regulators

research BRCA2 in abscission

August 2012 in “Nature Cell Biology”

The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.

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 Analysis of Sequences Controlling Tissue-Specific and Hyperproliferation-Related Keratin 6 Gene Expression in Transgenic Mice

26 citations , February 1998 in “DNA and Cell Biology”

K6 gene expression can be controlled and manipulated in mice for studying skin disorders.

research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions

47 citations , April 2000 in “Experimental Dermatology”

A new gene mutation causes a rare type of hair loss.

research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia

November 2025 in “Journal of Investigative Dermatology”

Genetic variants in specific genes cause central centrifugal cicatricial alopecia.

research Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness

51 citations , November 2011 in “British Journal of Dermatology”

A gene called HDAC9 might be a new factor in male-pattern baldness.

research BAC-mediated gene-dosage analysis reveals a role for Zipro1 (Ru49/Zfp38) in progenitor cell proliferation in cerebellum and skin

117 citations , August 1999 in “Nature Genetics”

research Genetic Susceptibility to Alopecia

5 citations , February 2019 in “The New England Journal of Medicine”

Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.

research Adenomatous Polyposis Coli (APC) Is Required for Normal Development of Skin and Thymus

184 citations , September 2006 in “PLoS Genetics”

The Apc gene is crucial for normal skin and thymus development.

research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa

September 2024 in “Journal of Medicine and Life”

A specific gene mutation causes a severe skin disorder in a family.

research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies

39 citations , October 2012 in “Familial cancer”

New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.

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