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research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia

August 2024 in “American Journal of Medical Genetics Part A”

Trichohepatoneurodevelopmental syndrome (THNS) is an ultra-rare disorder characterized by liver dysfunction, hypotonia, developmental delay, coarse hair, and dysmorphic features. This report describes the fifth and sixth cases of THNS from Saudi Arabia, both presenting with these symptoms. Genetic analysis revealed pathogenic variants in the CCDC47 gene: a homozygous variant in Case 1 and two heterozygous variants in Case 2, confirmed to be in trans phase through parental testing. These findings contribute to a stronger gene-disease association and help clarify the clinical phenotype and mutational spectrum of THNS.

research Hair Cycle-Dependent Expression of Hepatocyte Growth Factor (HGF) Activator, Other Proteinases, and Proteinase Inhibitors Correlates with the Expression of HGF in Rat Hair Follicles

33 citations , December 1999 in “Journal of Investigative Dermatology Symposium Proceedings”

research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair

7 citations , February 2011 in “Journal of dermatology”

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.

LSD1 Interacting With HSP90 Promotes Skin Wound Healing by Inducing Metabolic Reprogramming of Hair Follicle Stem Cells Through the c-MYC/LDHA Axis

research LSD1 interacting with HSP90 promotes skin wound healing by inducing metabolic reprogramming of hair follicle stem cells through the c‐MYC/LDHA axis

1 citations , June 2023 in “The FASEB journal”

LSD1 and HSP90 help heal skin wounds by changing hair follicle stem cells' metabolism.

research HLA-B27 Antigen in Women With Ankylosing Spondylitis

7 citations , June 1976 in “JAMA”

Most women with ankylosing spondylitis tested positive for HLA-B27, suggesting it's useful for diagnosis.

research Hypertrichosis lanuginosa acquisita associated with autoimmune hepatitis

4 citations , August 2006 in “The Journal of Dermatology”

HLA can be linked to autoimmune hepatitis.

research Abstracts

3 citations , May 2018 in “Experimental Dermatology”

Young HS patients often have other physical and mental health issues, and research on HS covers a wide range of topics including genetics, triggers, treatments, and the need for more data.

Hydroxysteroid Dehydrogenase (17β-HSD3, 17β-HSD5, and 3α-HSD3) Inhibitors: Extragonadal Regulation of Intracellular Sex Steroid Hormone Levels

research Hydroxysteroid Dehydrogenase (17β -HSD3, 17β-HSD5, and 3α-HSD3) Inhibitors:Extragonadal Regulation of Intracellular Sex Steroid Hormone Levels

20 citations , June 2007 in “Recent Patents on Endocrine, Metabolic & Immune Drug Discovery”

Certain inhibitors can potentially treat prostate cancer and other hormone-dependent conditions by controlling sex hormone levels in cells.

research Abstract 2469: Increased cathepsin B expression in cultured tuberous sclerosis skin tumor cells and patient tumor tissues

April 2012

Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.

research S100A4/Nonmuscle Myosin IIA/p53 Axis Contributes to Aggressive Features in Ovarian High-Grade Serous Carcinoma

32 citations , August 2020 in “American Journal Of Pathology”

S100A4 promotes aggressive ovarian cancer and is a potential treatment target.

research ANTI‐HAIR KERATIN MONOCLONAL ANTIBODY (HKN‐2)

13 citations , August 1985 in “The Journal of Dermatology”

HKN-2 antibody targets specific skin and hair cells, showing keratin complexity.

research Hemorrhagic cystitis in allogeneic stem cell transplantation: a role for age and prostatic hyperplasia

5 citations , February 2022 in “Supportive Care in Cancer”

Older age is the main risk factor for hemorrhagic cystitis after stem cell transplants.

research 085 Coordinate expressions of cyclin-dependent kinase inhibitors and high sulfur protein in human hair follicles

June 1996 in “Journal of Dermatological Science”

research Regulation of stem cell fate by HSPGs: implication in hair follicle cycling

3 citations , December 2022 in “npj Regenerative Medicine”

HSPGs help control stem cell behavior, affecting hair growth and offering a target for hair loss treatments.

research hKAP1.6 and hKAP1.7, Two Novel Human High Sulfur Keratin-Associated Proteins are Expressed in the Hair Follicle Cortex

24 citations , February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology”

Two new proteins, hKAP1.6 and hKAP1.7, are found in the hair follicle cortex.

Skin Organoids Derived From NCSTN Mutated Patient-Induced Pluripotent Stem Cells Recapitulate Hidradenitis Suppurativa Pathogenic Hallmarks

research 545 Skin Organoids derived from NCSTN mutated patient-induced pluripotent stem cells recapitulate Hidradenitis Suppurativa pathogenic hallmarks

November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.

research Identification de 2 polymorphismes génétiques (SNPs) associés aux spondylarthropathies (SpA) dans le locus SPA2 (9q31-34)

October 2007 in “Revue du Rhumatisme”

research Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans

126 citations , October 1998 in “Experimental Dermatology”

The hr gene is crucial for skin and hair health, with mutations causing hair disorders.

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 Beta-trace protein in chronic inflammatory demyelinating polyradiculoneuropathy and Guillain-Barré syndrome – clinical utilization and a new insight into pathophysiological mechanisms

1 citations , February 2025 in “Journal of the Neurological Sciences”

Beta-trace protein may help diagnose and predict treatment response in certain nerve disorders.

research Cell‐free DNA is elevated in the serum of patients with hidradenitis suppurativa

2 citations , December 2022 in “The Journal of Dermatology”

Patients with hidradenitis suppurativa have higher levels of cell-free DNA in their blood.

research Introduction: splintering urbanism

January 2007 in “Edward Elgar eBooks”

TSPO might help treat anxiety and depression.

The Early Region of Trichodysplasia Spinulosa Polyomavirus Drives Proliferation, Altered Differentiation, and Ectopic Expression of Hair Follicle Differentiation Markers in Interfollicular Tail Epidermis

research LB1019 The early region of trichodysplasia spinulosa polyomavirus drives proliferation, altered differentiation, and ectopic expression of hair follicle differentiation markers in interfollicular tail epidermis

July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.

research 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation

November 2022 in “Journal of Investigative Dermatology”

NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.

research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

1 citations , September 2023 in “Frontiers in Genetics”

A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.

Expression of Keratin 75 (K6hf) in Oral Squamous Cell Carcinoma

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