TSR2

Summary

TSR2 (TSR2 ribosome maturation factor, HGNC:25455) is a protein-coding gene on chromosome Xp11.22, encoding Pre-rRNA-processing protein TSR2 homolog (Q969E8). May be involved in 20S pre-rRNA processing. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).

The protein encoded by this gene appears to repress the transcription of NF-kappaB and may be involved in apoptosis. Defects in this gene are a cause of Diamond-Blackfan anemia.

Source: NCBI Gene 90121 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Diamond-Blackfan anemia (Supportive, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 105 total — 2 pathogenic
• Phenotypes (HPO): 69
• Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_058163

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25455
Approved symbol	TSR2
Name	TSR2 ribosome maturation factor
Location	Xp11.22
Locus type	gene with protein product
Status	Approved
Aliases	DT1P1A10, RP1-112K5.2, WGG1
Ensembl gene	ENSG00000158526
Ensembl biotype	protein_coding
OMIM	300945
Entrez	90121

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000375151, ENST00000908048, ENST00000908049, ENST00000960846, ENST00000960847

RefSeq mRNA: 5 — MANE Select: NM_058163 NM_001346789, NM_001346790, NM_001346791, NM_001346792, NM_058163

CCDS: CCDS14358

Canonical transcript exons

ENST00000375151 — 5 exons

Exon	Start	End
ENSE00001039371	54444008	54444184
ENSE00001039374	54443400	54443491
ENSE00001039377	54440690	54440780
ENSE00001465923	54444416	54448032
ENSE00001465934	54440404	54440502

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 97.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.1011 / max 516.7301, expressed in 1816 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
196430	29.1011	1816

Top tissues by expression

293 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	97.32	gold quality
medial globus pallidus	UBERON:0002477	96.73	gold quality
globus pallidus	UBERON:0001875	95.78	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.09	gold quality
putamen	UBERON:0001874	94.38	gold quality
amygdala	UBERON:0001876	94.38	gold quality
spinal cord	UBERON:0002240	94.34	gold quality
cranial nerve II	UBERON:0000941	94.33	gold quality
inferior olivary complex	UBERON:0002127	94.32	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	94.27	gold quality
nucleus accumbens	UBERON:0001882	94.02	gold quality
pons	UBERON:0000988	93.84	gold quality
hypothalamus	UBERON:0001898	93.65	gold quality
substantia nigra	UBERON:0002038	93.35	gold quality
temporal lobe	UBERON:0001871	93.26	gold quality
midbrain	UBERON:0001891	93.24	gold quality
medulla oblongata	UBERON:0001896	93.04	gold quality
middle temporal gyrus	UBERON:0002771	92.96	gold quality
caudate nucleus	UBERON:0001873	92.94	gold quality
cingulate cortex	UBERON:0003027	92.86	gold quality
anterior cingulate cortex	UBERON:0009835	92.73	gold quality
ventral tegmental area	UBERON:0002691	92.64	gold quality
right frontal lobe	UBERON:0002810	92.64	gold quality
superior vestibular nucleus	UBERON:0007227	92.48	gold quality
Ammon’s horn	UBERON:0001954	92.47	gold quality
inferior vagus X ganglion	UBERON:0005363	92.38	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.32	gold quality
orbitofrontal cortex	UBERON:0004167	92.31	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.85	gold quality
Brodmann (1909) area 46	UBERON:0006483	91.66	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-70580	no	834.49
E-MTAB-6058	no	241.62
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

46 targeting TSR2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-3916	98.99	68.04	2155
HSA-MIR-6859-5P	98.99	68.07	2049
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-3150B-3P	98.81	67.21	1728
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-6804-5P	98.39	65.77	1084
HSA-MIR-3187-5P	98.36	65.74	1776
HSA-MIR-4773	98.35	67.30	1710

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 5)

• This data for the first time suggests that TSR2 is involved in the NF-kappaB signaling pathway and may regulate apoptosis. (PMID:21790011)
• A likely pathogenic X-linked mutation affecting a highly conserved residue was found in TSR2 and De novo mutations affecting the RPS28 start codon were found in two unrelated probands, identifying RPS28 as a novel disease gene. (PMID:24942156)
• eS26-ESS and Tsr2 are components of a nuclear sorting system that co-evolved with the emergence of the nucleocytoplasmic barrier and transport carriers (PMID:30201955)
• Higher expression of TSR2 aggravating hypertension via the PPAR signaling pathway. (PMID:38814181)
• [TSR2 overexpression inhibits proliferation and invasion of gastric cancer cells by downregulating the PI3K/AKT signaling pathway]. (PMID:38862449)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tsr2	ENSDARG00000005772
mus_musculus	Tsr2	ENSMUSG00000025264
rattus_norvegicus	Tsr2	ENSRNOG00000064917
drosophila_melanogaster	CG14543	FBGN0039404
caenorhabditis_elegans		WBGENE00013109

Protein

Protein identifiers

Pre-rRNA-processing protein TSR2 homolog — Q969E8 (reviewed: Q969E8)

All UniProt accessions (1): Q969E8

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in 20S pre-rRNA processing.

Disease relevance. Diamond-Blackfan anemia 14, with mandibulofacial dysostosis (DBA14) [MIM:300946] An X-linked recessive form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TSR2 family.

RefSeq proteins (5): NP_001333718, NP_001333719, NP_001333720, NP_001333721, NP_477511* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019398	Pre-rRNA_process_TSR2	Family

Pfam: PF10273

UniProt features (3 total): chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q969E8-F1	74.60	0.32

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 268 (showing top): GOBP_RIBOSOME_BIOGENESIS, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_MATURATION_OF_SSU_RRNA, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOBP_MATURATION_OF_SSU_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA, USF_01, BIDUS_METASTASIS_UP, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, CASORELLI_ACUTE_PROMYELOCYTIC_LEUKEMIA_DN, TOYOTA_TARGETS_OF_MIR34B_AND_MIR34C, KIM_ALL_DISORDERS_CALB1_CORR_UP, chrXp11, LEE_BMP2_TARGETS_DN, GSE13522_CTRL_VS_T_CRUZI_Y_STRAIN_INF_SKIN_BALBC_MOUSE_UP

GO Biological Process (2): maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462), rRNA processing (GO:0006364)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
maturation of SSU-rRNA	1
RNA processing	1
rRNA metabolic process	1
ribosome biogenesis	1
binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1776 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TSR2	RPS26	P02383	961
TSR2	TSR1	Q2NL82	902
TSR2	TSR3	Q9UJK0	847
TSR2	GRWD1	Q9BQ67	776
TSR2	RPL5	P46777	699
TSR2	RPL27	P08526	670
TSR2	RPL11	P25121	667
TSR2	RPS28	P25112	659
TSR2	RPL31	P12947	648
TSR2	RPS19	P39019	621
TSR2	RPS10	P46783	621
TSR2	HEATR3	Q7Z4Q2	611
TSR2	RPS24	P16632	608
TSR2	RPL18	Q07020	601
TSR2	RPS29	P30054	592

IntAct

111 interactions, top by confidence:

A	B	Type	Score
TSR2	RPS26	psi-mi:“MI:0915”(physical association)	0.880
RPS26	TSR2	psi-mi:“MI:0915”(physical association)	0.880
TSR2	GABARAPL2	psi-mi:“MI:0915”(physical association)	0.780
GABARAPL2	TSR2	psi-mi:“MI:0915”(physical association)	0.780
ZBTB9	TSR2	psi-mi:“MI:0915”(physical association)	0.720
TSR2	ZBTB9	psi-mi:“MI:0915”(physical association)	0.720
GABARAPL2	IPO5	psi-mi:“MI:0914”(association)	0.690
GABARAP	TSR2	psi-mi:“MI:0915”(physical association)	0.670
TSR2	PIAS2	psi-mi:“MI:0915”(physical association)	0.560
TSR2	KIFC3	psi-mi:“MI:0915”(physical association)	0.560
PIAS2	TSR2	psi-mi:“MI:0915”(physical association)	0.560
KIFC3	TSR2	psi-mi:“MI:0915”(physical association)	0.560
TSR2	CMIP	psi-mi:“MI:0915”(physical association)	0.560
TSR2	DAPL1	psi-mi:“MI:0915”(physical association)	0.560
TSR2	SPATC1L	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (82): TSR2 (Two-hybrid), TSR2 (Two-hybrid), TSR2 (Two-hybrid), TSR2 (Two-hybrid), ZBTB9 (Two-hybrid), TSR2 (Two-hybrid), TSR2 (Co-fractionation), TSR2 (Co-fractionation), RPS26 (Reconstituted Complex), TSR2 (Two-hybrid), TSR2 (Two-hybrid), TSR2 (Two-hybrid), TSR2 (Two-hybrid), TSR2 (Two-hybrid), TSR2 (Two-hybrid)

ESM2 similar proteins: A1CE78, A1DM87, A1L1R0, A1ZAW5, A2RBA1, B5X3I1, C0HAV3, F1QFS9, F1QLR3, O17453, O48726, P35521, P54105, P54106, P55035, P58686, P97874, Q04753, Q05B18, Q0CTS1, Q0UTL2, Q1E076, Q28678, Q2HJA9, Q3KPN2, Q3KRG3, Q3T090, Q4WNC1, Q5B122, Q5EAU9, Q5R719, Q5RET3, Q5U4Z3, Q61189, Q63737, Q6GM14, Q6PD74, Q7SXW2, Q7TNY6, Q8BMP6

Diamond homologs: Q06672, Q3KPN2, Q3T090, Q8C8T8, Q969E8, Q9UUA9, Q3KRG3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

105 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	39
Likely benign	16
Benign	4

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
187847	NM_058163.3(TSR2):c.191A>G (p.Glu64Gly)	Pathogenic
996784	NM_004463.3(FGD1):c.2735G>A (p.Trp912Ter)	Pathogenic

SpliceAI

753 predictions. Top by Δscore:

Variant	Effect	Δscore
X:54443394:A:AG	acceptor_gain	1.0000
X:54443395:C:G	acceptor_gain	1.0000
X:54443398:A:AG	acceptor_gain	1.0000
X:54443398:AGCT:A	acceptor_gain	1.0000
X:54443399:G:GG	acceptor_gain	1.0000
X:54443399:GCT:G	acceptor_gain	1.0000
X:54443399:GCTG:G	acceptor_gain	1.0000
X:54443399:GCTGA:G	acceptor_gain	1.0000
X:54443489:CAGGT:C	donor_loss	1.0000
X:54443490:AGGT:A	donor_loss	1.0000
X:54443491:GGT:G	donor_loss	1.0000
X:54443492:G:GG	donor_gain	1.0000
X:54443492:GTGAG:G	donor_loss	1.0000
X:54443493:T:G	donor_loss	1.0000
X:54444182:G:GT	donor_gain	1.0000
X:54444412:CCA:C	acceptor_loss	1.0000
X:54444413:CAGG:C	acceptor_loss	1.0000
X:54444414:AGGT:A	acceptor_loss	1.0000
X:54447455:C:CC	acceptor_gain	1.0000
X:54440500:CAGG:C	donor_loss	0.9900
X:54440501:AG:A	donor_loss	0.9900
X:54440502:GG:G	donor_loss	0.9900
X:54440503:GTCA:G	donor_loss	0.9900
X:54440504:T:G	donor_loss	0.9900
X:54440781:G:GA	donor_loss	0.9900
X:54440782:T:G	donor_loss	0.9900
X:54440783:GAGT:G	donor_loss	0.9900
X:54443395:CTTA:C	acceptor_loss	0.9900
X:54443396:TTAG:T	acceptor_loss	0.9900
X:54443397:TA:T	acceptor_loss	0.9900

AlphaMissense

1268 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:54444524:T:A	W184R	0.996
X:54444524:T:C	W184R	0.996
X:54444526:G:C	W184C	0.995
X:54444526:G:T	W184C	0.995
X:54440488:T:A	W23R	0.994
X:54440488:T:C	W23R	0.994
X:54440694:C:A	A29D	0.993
X:54443456:T:C	F77L	0.992
X:54443458:T:A	F77L	0.992
X:54443458:T:G	F77L	0.992
X:54443474:G:C	D83H	0.992
X:54444534:T:A	V187D	0.992
X:54440708:T:C	F34L	0.990
X:54440710:C:A	F34L	0.990
X:54440710:C:G	F34L	0.990
X:54443480:A:C	S85R	0.990
X:54443482:T:A	S85R	0.990
X:54443482:T:G	S85R	0.990
X:54443457:T:C	F77S	0.989
X:54444011:A:C	S90R	0.989
X:54444013:C:A	S90R	0.989
X:54444013:C:G	S90R	0.989
X:54444525:G:C	W184S	0.989
X:54440712:G:A	G35E	0.987
X:54443476:C:A	D83E	0.987
X:54443476:C:G	D83E	0.987
X:54440490:G:C	W23C	0.985
X:54440490:G:T	W23C	0.985
X:54444021:T:C	L93P	0.985
X:54440723:A:C	S39R	0.978

dbSNP variants (sampled 300 via entrez): RS1000031569 (X:54445097 C>A), RS1000764524 (X:54439395 C>T), RS1001196025 (X:54441112 T>C), RS1001593369 (X:54439758 G>C), RS1002043992 (X:54440121 C>G,T), RS1002437757 (X:54447698 G>A), RS1002582728 (X:54441737 G>C,T), RS1002863260 (X:54442421 T>A), RS1003335426 (X:54444999 T>C), RS1004559780 (X:54446468 G>A,T), RS1004654429 (X:54446039 G>A), RS1004933782 (X:54444614 T>G), RS1004984742 (X:54445046 C>T), RS1005766692 (X:54439082 A>G), RS1005961842 (X:54438749 G>T)

Disease associations

OMIM: gene MIM:300945 | disease phenotypes: MIM:300946, MIM:606164, MIM:309530

GenCC curated gene-disease

Disease	Classification	Inheritance
Diamond-Blackfan anemia	Supportive	Autosomal dominant
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	Limited	X-linked

Mondo (4): Diamond-Blackfan anemia 14 with mandibulofacial dysostosis (MONDO:0010493), Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (MONDO:0011639), intellectual disability, X-linked 1 (MONDO:0010656), Diamond-Blackfan anemia (MONDO:0015253)

Orphanet (3): Diamond-Blackfan anemia (Orphanet:124), X-linked non-syndromic intellectual disability (Orphanet:777), Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (Orphanet:397933)

HPO phenotypes

69 total (30 of 69 shown, HPO-id order):

HPO	Term
HP:0000047	Hypospadias
HP:0000085	Horseshoe kidney
HP:0000104	Renal agenesis
HP:0000119	Abnormality of the genitourinary system
HP:0000175	Cleft palate
HP:0000185	Cleft soft palate
HP:0000218	High palate
HP:0000234	Abnormality of the head
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000294	Low anterior hairline
HP:0000316	Hypertelorism
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000405	Conductive hearing impairment
HP:0000413	Atresia of the external auditory canal
HP:0000431	Wide nasal bridge
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000508	Ptosis
HP:0000519	Developmental cataract
HP:0000653	Sparse eyelashes
HP:0000912	Sprengel anomaly
HP:0000980	Pallor
HP:0001087	Developmental glaucoma
HP:0001199	Triphalangeal thumb
HP:0001227	Abnormality of the thenar eminence
HP:0001254	Lethargy

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008860_37	Prostate cancer	7.000000e-09

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D029503	Anemia, Diamond-Blackfan	C15.378.050.085.080.090; C15.378.050.750.500; C15.378.190.223.500.500.090; C16.320.077.090
C567906	Mental Retardation, X-Linked 1 (supp.)
C564489	Mental Retardation, X-Linked 78 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
tetrahydropalmatine	increases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	increases expression, affects cotreatment, increases abundance	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
epigallocatechin gallate	increases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
Resveratrol	increases expression, affects cotreatment	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cadmium	increases abundance, increases expression	1
Diethylstilbestrol	decreases expression	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Lead	decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
T-2 Toxin	increases expression	1
Vanadates	decreases expression	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	increases abundance, increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

39 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00673608	PHASE4	COMPLETED	Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload
NCT00235391	PHASE3	COMPLETED	Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload
NCT00001962	PHASE2	TERMINATED	A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure
NCT00011505	PHASE2	COMPLETED	Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia
NCT00301834	PHASE2	COMPLETED	Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders
NCT00957931	PHASE2	COMPLETED	Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs
NCT01529827	PHASE2	COMPLETED	Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
NCT02386267	PHASE2	UNKNOWN	L-leucine in Diamond Blackfan Anemia Patients
NCT02512679	PHASE2	TERMINATED	Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells
NCT03333486	PHASE2	TERMINATED	Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
NCT04099966	PHASE2	RECRUITING	AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
NCT04965597	PHASE2	COMPLETED	Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)
NCT01586455	PHASE1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT00176852	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Hemoglobinopathy
NCT00176878	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Bone Marrow Failure Syndromes
NCT00305708	PHASE1/PHASE2	COMPLETED	Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission
NCT01362595	PHASE1/PHASE2	COMPLETED	Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia
NCT01419704	PHASE1/PHASE2	WITHDRAWN	Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies
NCT01464164	PHASE1/PHASE2	TERMINATED	Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia
NCT01966367	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
NCT02065869	PHASE1/PHASE2	TERMINATED	Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant
NCT03513328	PHASE1/PHASE2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
NCT03653338	PHASE1/PHASE2	RECRUITING	T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias
NCT03733249	PHASE1/PHASE2	TERMINATED	Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study
NCT03966053	PHASE1/PHASE2	TERMINATED	The Use of Trifluoperazine in Transfusion Dependent DBA
NCT00027274	Not specified	RECRUITING	Cancer in Inherited Bone Marrow Failure Syndromes
NCT00244010	Not specified	COMPLETED	Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias
NCT00290628	Not specified	TERMINATED	Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer
NCT01114776	Not specified	COMPLETED	Multi-Center Study of Iron Overload: Pilot Study
NCT01319851	Not specified	TERMINATED	Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation
NCT01758042	Not specified	COMPLETED	Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders
NCT01913548	Not specified	COMPLETED	Multi-Center Study of Iron Overload: Survey Study (MCSIO)
NCT02179359	Not specified	TERMINATED	Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies
NCT02720679	Not specified	RECRUITING	Investigation of the Genetics of Hematologic Diseases
NCT03050268	Not specified	RECRUITING	Familial Investigations of Childhood Cancer Predisposition
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT07186179	Not specified	RECRUITING	Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS)
NCT01238250	Not specified	RECRUITING	Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight