A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.

Protective role of early Tnfsf15 upregulation in limiting glomerular injury and proteinuria in experimental Alport Syndrome.

Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney.

Anticodon-edited tRNA enables translational readthrough of COL4A5 premature termination codons.

Non-Syndromic Hereditary Gingival Fibromatosis Driven by Chymase Deficiency Is Attenuated by Verteporfin-Loaded Exosomes.

Advances in research on congenital and hereditary intestinal diseases: From molecular mechanisms to precision medicine.

Senior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report.

Case Report: autosomal dominant distal motor neuropathy as a new phenotype of KIF21A-related disorders.

From RAAS blockade to regenerative medicine: evolving treatment strategies in Alport syndrome.

Decoding VEXAS syndrome: emerging insights into pathogenesis and clinical management.

Early-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges.

An Integrative Genotyping and Gene Expression Profiling of the Mutated Human FAM111B Gene and Fibrosis-Associated Pathway in the POIKTMP Syndrome.

External Neurolysis and Hypothenar Fat Pad Flap With Early Nerve Gliding Exercise Regimen for Recurrent Carpal Tunnel Syndrome.

Serum Galectin-3 and Presepsin Levels in Pediatric Familial Mediterranean Fever Patients During Remission: A Prospective Study.

Treatment Approaches for Alport Syndrome.

A rare case of dual glomerular pathology: Alport syndrome and immune complex-mediated MPGN.

Perivascular inflammation in the progression of aortic aneurysms in Marfan syndrome.

The Significance of the Presence of Gilbert's Syndrome in Patients With Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD): A Retrospective Cohort Study.

[Myeloproliferative syndrome as a cause of chorea].

An engineered glutamic acid tRNA for efficient suppression of pathogenic nonsense mutations.

Nephronophthisis and Retinitis Pigmentosa (Senior-Loken Syndrome) After Living-Donor Kidney Transplantation: Twelve-Year Follow-Up in a Young Woman.

Dapagliflozin, in addition to ramipril, ameliorates kidney disease progression in mice with Alport syndrome.

Chemical chaperone 4-phenylbutyrate treatment alleviates the kidney phenotype in a mouse model of Alport syndrome with a pathogenic variant in Col4a3.

Nonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview.

A novel mouse model for X-linked Alport syndrome induced by splicing mutation in the Col4a5 gene.

Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of SERAC1.

Hydrogel Innovations in Biosensing: A New Frontier for Pancreatitis Diagnostics.

Whole exome sequencing enhances diagnosis of hereditary bronchiectasis.

Increased HA/CD44/TGFβ signaling implicates in renal fibrosis of a Col4a5 mutant Alport mice.

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.

Genetic Mutations and Post-Lung Transplant Complications: A Case of Hereditary Transthyretin Amyloidosis.

Genetic study on candidates for oocyte donation.

Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus.

Clinical, histological and receptor profiles of invasive breast cancer and ductal carcinoma in situ in females with germline pathogenic variants in PTEN and implications for germline testing.

Alport Syndrome With a Rare Collagen Type IV Alpha-4 (COL4A4) Gene Mutation: A Case Report.

Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes.

Limited fasciectomy with versus without autologous adipose tissue grafting for treatment of Dupuytren's contracture (REMEDY): study protocol for a multicentre randomised controlled trial.

Alpha-1 antitrypsin deficiency and Pi*Z allele as important co-factors in the development of liver fibrosis.

A pedigree analysis of Rotor hyperbilirubinemia combined with hepatitis B virus infection in a SLCO1B1 and SLCO1B3 gene mutations patient.

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.

Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness.

Tauroursodeoxycholic acid ameliorates renal injury induced by COL4A3 mutation.

Metabolic Analysis and Renal Protective Effects of Linagliptin and Empagliflozin in Alport Syndrome.

Systemic sclerosis associated myopathy: how to treat.

ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder.

Midfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.

MRI evaluation of cranial nerve abnormalities and extraocular muscle fibrosis in duane retraction syndrome and congenital extraocular muscle fibrosis.

A case of crescentic glomerulonephritis with exacerbation of pre-existing IgA nephropathy after COVID-19.

Throwing off the keratin chains: a potential therapy for hereditary podocytopathy.

PDGF-D Is Dispensable for the Development and Progression of Murine Alport Syndrome.

A Population-Based and Clinical Cohort Validation of the Novel Consensus Definition of Metabolic Hyperferritinemia.

[Lung involvement in autoinflammatory diseases].

Two sides of the same coin: a complex presentation of autosomal dominant tubulointerstitial kidney diseases: a literature review and case reports.

Histologic characterization of primary ciliary dyskinesia chronic rhinosinusitis.

The Functional Role of microRNAs and mRNAs in Diabetic Kidney Disease: A Review.

Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis.

Pathophysiologic implications of elevated prevalence of hereditary alpha-tryptasemia in all mastocytosis subtypes.

Mitochondrial DNA 13513G>A Mutation Causing Leber Hereditary Optic Neuropathy Associated With Adult-Onset Renal Failure.

Finerenone Added to RAS/SGLT2 Blockade for CKD in Alport Syndrome. Results of a Randomized Controlled Trial with Col4a3-/- Mice.

Risk factors and clinical features associated with basal ganglia manganese deposition in patients with hereditary hemorrhagic telangiectasia.

A Treatment Approach in Congenital Fibrosis of Extraocular Muscles.

Dual inhibition of the endothelin and angiotensin receptor ameliorates renal and inner ear pathologies in Alport mice.

Repurposing small molecules for nephronophthisis and related renal ciliopathies.

Targeting Fibrosis Pathways in Alport Syndrome-Is it Too Late?

The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.

Ratio of Urinary Proteins to Albumin Excretion Shifts Substantially during Progression of the Podocytopathy Alport Syndrome, and Spot Urine Is a Reliable Method to Detect These Pathologic Changes.

Emerging Personalized Opportunities for Enhancing Translational Readthrough in Rare Genetic Diseases and Beyond.

A common genetic variation in GZMB may associate with cancer risk in patients with Lynch syndrome.

Topical Losartan: Practical Guidance for Clinical Trials in the Prevention and Treatment of Corneal Scarring Fibrosis and Other Eye Diseases and Disorders.

Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing.

Update of penetrance estimates in Birt-Hogg-Dubé syndrome.

PPAR δ Agonism Ameliorates Renal Fibrosis in an Alport Syndrome Mouse Model.

[Risk and protective factors for colorectal cancer].

Interstitial lung disease in autoinflammatory disease in childhood: A systematic review of the literature.

Luspatercept: A New Tool for the Treatment of Anemia Related to β-Thalassemia, Myelodysplastic Syndromes and Primary Myelofibrosis.

Late Presentation of Dyskeratosis Congenita: Germline Predisposition to Adult-Onset Secondary Acute Myeloid Leukemia.

PUNCTATE INNER CHOROIDOPATHY-LIKE REACTIONS IN UNRELATED RETINAL DISEASES.

Activation of Stimulator of IFN Genes (STING) Causes Proteinuria and Contributes to Glomerular Diseases.

Recurrent orbital inflammation associated with VEXAS syndrome.

EHBP1L1 Frameshift Deletion in English Springer Spaniel Dogs with Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) or Neonatal Losses.

Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature.

Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.

Myocardial Scintigraphy in Diagnosing Cardiac Transthyretin Amyloidosis.

Novel APOB nonsense variant related to familial hypobetalipoproteinemia and hepatic steatosis: A case report and review.

Keratopathy in Noonan Syndrome.

Potential Renal Damage Biomarkers in Alport Syndrome-A Review of the Literature.

Hepatic Necrosis Mimicking Infiltrative Masses in Acute Budd-Chiari Syndrome With Hereditary Protein C Deficiency.

Novel Keap1-Nrf2 Protein-Protein Interaction Inhibitor UBE-1099 Ameliorates Progressive Phenotype in Alport Syndrome Mouse Model.

Primary myelofibrosis with thrombophilia as first symptom combined with thalassemia and Gilbert syndrome: A case report.

Microvascular neural blood flow assessment for a chronic nerve compression neuropathy mouse model by fluorescein angiography.

Association Between Deleterious SCN5A Variants and Ventricular Septal Defect in Young Patients With Brugada Syndrome.

Inherited pancreatic exocrine insufficiency and pancreatitis: When children transition to adult care.

Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes.

Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.

Anti-microRNA-21 Therapy on Top of ACE Inhibition Delays Renal Failure in Alport Syndrome Mouse Models.

A Neutralizing IL-11 Antibody Improves Renal Function and Increases Lifespan in a Mouse Model of Alport Syndrome.

Enhanced S-Cone Syndrome Masquerading as TORCH in an Infant and a Toddler.

Factors for severe outcomes following SARS-CoV-2 infection in people with cystic fibrosis in Europe.

Intravital imaging reveals glomerular capillary distension and endothelial and immune cell activation early in Alport syndrome.

Histopathology of the Conduction System in Long QT Syndrome.

Tale of two nephropathies; co-occurring Alport syndrome and IgA nephropathy, a case report.

Creation of X-linked Alport syndrome rat model with Col4a5 deficiency.

Lung cancer is also a hereditary disease.

Screening strategy for gastrointestinal and hepatopancreatobiliary cancers in cystic fibrosis.

Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition.

WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas.

Amiodarone-induced multiple organ damage in an Alström syndrome patient with end-stage renal disease and hepatic cirrhosis.

Organoprotective Effects of Spironolactone on Top of Ramipril Therapy in a Mouse Model for Alport Syndrome.

Pancreas in Hereditary Syndromes: Cross-sectional Imaging Spectrum.

CRISPR-Cas9 for treating hereditary diseases.

Function and Regulation of the Epithelial Na+ Channel ENaC.

Incidence of SARS-CoV-2 in people with cystic fibrosis in Europe between February and June 2020.

Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach.

A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant.

Recognizable Patterns of Submacular Fibrosis in Enhanced S-Cone Syndrome.

Metformin ameliorates the severity of experimental Alport syndrome.

Life-Long Hyperbilirubinemia Exposure and Bilirubin Priming Prevent In Vitro Metabolic Damage.

HMGB-1 and TGFβ-1 highlight immuno-inflammatory and fibrotic processes before proteinuria onset in pediatric patients with Alport syndrome.

Luminal Gastrointestinal Manifestations of Cystic Fibrosis.

Kidney-accumulating olmesartan-loaded nanomicelles ameliorate the organ damage in a murine model of Alport syndrome.

Inherited skin disorders presenting with poikiloderma.

The role of discoidin domain receptor 2 in the renal dysfunction of alport syndrome mouse model.

Epidemiology, pathogenesis, diagnosis, surveillance, and management of hepatocellular carcinoma associated with vascular liver disease.

Pulmonary Abnormalities in Liver Disease: Relevance to Transplantation and Outcome.

Diseases of the corneal endothelium.

Diagnosis and management of secondary causes of steatohepatitis.

Epigenomic Profiles of African-American Transthyretin Val122Ile Carriers Reveals Putatively Dysregulated Amyloid Mechanisms.

Activated KCNQ1 channel promotes fibrogenic response in hereditary gingival fibromatosis via clustering and activation of Ras.

Discoidin domain receptor 1 activation links extracellular matrix to podocyte lipotoxicity in Alport syndrome.

Nerve wrapping for recurrent compression neuropathy: A systematic review.

Interstitial Pneumonia Secondary to Hermansky-Pudlak Syndrome Type 4 Treated with Different Antifibrotic Agents.

Combined liver-kidney transplantation for rare diseases.

Pharmacological inhibition of Vanin-1 is not protective in models of acute and chronic kidney disease.

Hereditary gingival fibromatosis in children: a systematic review of the literature.

Contact lens induced bacterial keratitis in LCD II: Management and multimodal imaging: a case report and review of literature.

[Management of Primary Ciliary Dyskinesia].

Incidence and Natural History of Retinochoroidal Neovascularization in Enhanced S-Cone Syndrome.

Hereditary Palpebro-Gingival Fibrosis Syndrome.

Cutaneous Leiomyoma Mimicking a Keloid.

A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation.

FAM111 protease activity undermines cellular fitness and is amplified by gain-of-function mutations in human disease.

The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.

Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients.

Histopathologic features of breast cancer in Li-Fraumeni syndrome.

Sclerodermalike syndromes: Great imitators.

Liver cirrhosis in a patient with hepatic hereditary hemorrhagic telangiectasia and Budd-Chiari syndrome: a case report.

First proof of association between autoimmune polyglandular syndrome and multiple endocrine neoplasia in humans.

Diagnosis of Non-Alcoholic Fatty Liver Disease (NAFLD) Is Independently Associated with Cardiovascular Risk in a Large Austrian Screening Cohort.

SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant.

CG200745, a Novel HDAC Inhibitor, Attenuates Kidney Fibrosis in a Murine Model of Alport Syndrome.

An Unusual Case of Congenital Hepatic Fibrosis with Retinitis Pigmentosa.

Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report.

[Venous wall weackness pathogenesis in varicose vein disease].

Severe anemia caused by hereditary hemorrhagic telangiectasia in a patient with Sjögren's syndrome and primary biliary cirrhosis.

Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation.

Olmesartan Attenuates Kidney Fibrosis in a Murine Model of Alport Syndrome by Suppressing Tubular Expression of TGFβ.

The effect of dicarbonyl stress on the development of kidney dysfunction in metabolic syndrome - a transcriptomic and proteomic approach.

Two Specific Sulfatide Species Are Dysregulated during Renal Development in a Mouse Model of Alport Syndrome.

New therapeutic options for Alport syndrome.

An Original Description of Granulomatous Liver Cirrhosis in Blau Syndrome.

Osteopontin Promotes Left Ventricular Diastolic Dysfunction Through a Mitochondrial Pathway.

Amyloid in parenchymal organs in gelsolin (AGel) amyloidosis.

Unexpected Rapid Increase in the Burden of NAFLD in China From 2008 to 2018: A Systematic Review and Meta-Analysis.

John's story - living with hereditary haemochromatosis.

Mutation in FAM111B Causes Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis.

Pulmonary alveolar proteinosis.

Significance of UGT1A1*28 Genotype in Patients with Advanced Liver Injury Caused By Chronic Hepatitis C.

Dysregulated Expression of microRNA-21 and Disease-Related Genes in Human Patients and in a Mouse Model of Alport Syndrome.

Iron and liver fibrosis: Mechanistic and clinical aspects.

Lev's Syndrome: A rare case of progressive cardiac conduction disorder presenting to the emergency department.

Hemochromatosis - modern condition of the problem.

Bleeding assessment in female patients with the Hermansky-Pudlak syndrome-A case series.

Orthotopic Liver Transplantation for Hereditary Hemorrhagic Telangiectasia and MEN Type I Syndrome - Case Report and Review of Literature.

DNA-Encoded Library-Derived DDR1 Inhibitor Prevents Fibrosis and Renal Function Loss in a Genetic Mouse Model of Alport Syndrome.

Abnormal Expression of miR-21 in Kidney Tissue of Dogs With X-Linked Hereditary Nephropathy: A Canine Model of Chronic Kidney Disease.

Role of TGF-β in Alcohol-Induced Liver Disease.

Hydroxypropyl-β-cyclodextrin protects from kidney disease in experimental Alport syndrome and focal segmental glomerulosclerosis.

HDAC inhibition improves autophagic and lysosomal function to prevent loss of subcutaneous fat in a mouse model of Cockayne syndrome.

Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families.

Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.

Intralesional Deoxycholic Acid Treatment for Fibrofatty Residua of Involuted Infantile Hemangiomas: A Novel Therapeutic Approach.

Lysyl oxidase like-2 contributes to renal fibrosis in Col4α3/Alport mice.

Pathologic Features of Hereditary Cholestatic Diseases.

Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.

A case of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) with the emphasis on cutaneous histopathological findings.

Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome Associated with Deletion of Chromosome 20q.

Coexistence of keloids and pilomatricoma in a patient with Rubinstein-Taybi syndrome.

Alport's syndrome with focal segmental glomerulosclerosis lesion - Pattern to recognize.

Mildly Elevated Liver Transaminase Levels: Causes and Evaluation.

Amniotic fluid stem cell-derived vesicles protect from VEGF-induced endothelial damage.

Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II.

An inducible mouse model of podocin-mutation-related nephrotic syndrome.

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.

STAT3 inhibition attenuates the progressive phenotypes of Alport syndrome mouse model.

Bromide supplementation exacerbated the renal dysfunction, injury and fibrosis in a mouse model of Alport syndrome.

The activin receptor is stimulated in the skeleton, vasculature, heart, and kidney during chronic kidney disease.

Hereditary Lymphedema of the Leg - A Case Report.

The role of GLIS3 in thyroid disease as part of a multisystem disorder.

Liver Fibrosis Associated With Crigler-Najjar Syndrome in a Compound Heterozygote: A Case Report.